A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.
Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination.
A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.
A complex neoplasm composed of a mixture of gonadal elements, such as large primordial GERM CELLS, immature SERTOLI CELLS or GRANULOSA CELLS of the sex cord, and gonadal stromal cells. Gonadoblastomas are most often associated with gonadal dysgenesis, 46, XY.
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
A transcription factor that plays an essential role in the development of the TESTES. It is encoded by a gene on the Y chromosome and contains a specific HMG-BOX DOMAIN that is found within members of the SOX family of transcription factors.
The study of the patterns of ridges of the skin of the fingers, palms, toes, and soles.
Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM.
The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.
In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.
Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.
Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical.
A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.
A malignant ovarian neoplasm, thought to be derived from primordial germ cells of the sexually undifferentiated embryonic gonad. It is the counterpart of the classical seminoma of the testis, to which it is both grossly and histologically identical. Dysgerminomas comprise 16% of all germ cell tumors but are rare before the age of 10, although nearly 50% occur before the age of 20. They are generally considered of low-grade malignancy but may spread if the tumor extends through its capsule and involves lymph nodes or blood vessels. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1646)
Mapping of the KARYOTYPE of a cell.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
Validation of the SEX of an individual by inspection of the GONADS and/or by genetic tests.
The processes of anatomical and physiological changes related to sexual or reproductive functions during the life span of a human or an animal, from FERTILIZATION to DEATH. These include SEX DETERMINATION PROCESSES; SEX DIFFERENTIATION; SEXUAL MATURATION; and changes during AGING.
Neoplasms composed of tissues of the OVARY or the TESTIS, not neoplasms located in the ovaries or testes. Gonadal tissues include GERM CELLS, cells from the sex cord, and gonadal stromal cells.
An erectile structure homologous with the penis, situated beneath the anterior labial commissure, partially hidden between the anterior ends of the labia minora.
The primary testis-determining gene in mammalians, located on the Y CHROMOSOME. It codes for a high mobility group box transcription factor (TRANSCRIPTION FACTORS) which initiates the development of the TESTES from the embryonic GONADS.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
The external and internal organs related to reproduction.
The gamete-producing glands, OVARY or TESTIS.
A transcription factor and member of the nuclear receptor family NR5 that is expressed throughout the adrenal and reproductive axes during development. It plays an important role in sexual differentiation, formation of primary steroidogenic tissues, and their functions in post-natal and adult life. It regulates the expression of key steroidogenic enzymes.
The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.
An orphan nuclear receptor that is implicated in regulation of steroidogenic pathways. It is unlike most orphan nuclear receptors in that it appears to lack an essential DNA-binding domain and instead acts as a transcriptional co-repressor. Mutations in the gene Dax-1 cause congenital adrenal hypoplasia.
The mechanisms by which the SEX of an individual's GONADS are fixed.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
Absence of menstruation.
Congenital absence of or defects in structures of the eye; may also be hereditary.
The male gonad containing two functional parts: the SEMINIFEROUS TUBULES for the production and transport of male germ cells (SPERMATOGENESIS) and the interstitial compartment containing LEYDIG CELLS that produce ANDROGENS.
The front third of the eyeball that includes the structures between the front surface of the cornea and the front of the VITREOUS BODY.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
A SOXE transcription factor that plays a critical role in regulating CHONDROGENESIS; OSTEOGENESIS; and male sex determination. Loss of function of the SOX9 transcription factor due to genetic mutations is a cause of CAMPOMELIC DYSPLASIA.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
A plasticizer used in most plastics and found in water, air, soil, plants and animals. It may have some adverse effects with long-term exposure.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.
Pathological processes of the TESTIS.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
Inflammation of the OVARY, generally caused by an ascending infection of organisms from the endocervix.
The female reproductive organs. The external organs include the VULVA; BARTHOLIN'S GLANDS; and CLITORIS. The internal organs include the VAGINA; UTERUS; OVARY; and FALLOPIAN TUBES.
The reproductive organ (GONADS) in female animals. In vertebrates, the ovary contains two functional parts: the OVARIAN FOLLICLE for the production of female germ cells (OOGENESIS); and the endocrine cells (GRANULOSA CELLS; THECA CELLS; and LUTEAL CELLS) for the production of ESTROGENS and PROGESTERONE.
The yellow body derived from the ruptured OVARIAN FOLLICLE after OVULATION. The process of corpus luteum formation, LUTEINIZATION, is regulated by LUTEINIZING HORMONE.
The biological science concerned with the life-supporting properties, functions, and processes of living organisms or their parts.
The hollow thick-walled muscular organ in the female PELVIS. It consists of the fundus (the body) which is the site of EMBRYO IMPLANTATION and FETAL DEVELOPMENT. Beyond the isthmus at the perineal end of fundus, is CERVIX UTERI (the neck) opening into VAGINA. Beyond the isthmi at the upper abdominal end of fundus, are the FALLOPIAN TUBES.
A gonadotropic glycoprotein hormone produced primarily by the PLACENTA. Similar to the pituitary LUTEINIZING HORMONE in structure and function, chorionic gonadotropin is involved in maintaining the CORPUS LUTEUM during pregnancy. CG consists of two noncovalently linked subunits, alpha and beta. Within a species, the alpha subunit is virtually identical to the alpha subunits of the three pituitary glycoprotein hormones (TSH, LH, and FSH), but the beta subunit is unique and confers its biological specificity (CHORIONIC GONADOTROPIN, BETA SUBUNIT, HUMAN).
A book is not a medical term, but generally refers to a set of printed or written sheets of paper bound together that can contain a wide range of information including literature, research, educational content, and more, which may be utilized in the medical field for various purposes such as learning, reference, or patient education.

Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature. (1/111)

A sibship is described where the brother and a sister both have Kallmann's syndrome (anosmia and deficiency of gonadotrophin releasing hormone) and the woman also has streak ovaries. Although there are several conditions that may occur with Kallmann's syndrome, there are no known reports of ovarian dysgenesis being associated with this disorder. Cytogenetic analysis showed no rearrangement or major deletions of the chromosomes. Linkage analysis using informative microsatellite markers predicts that a gene other than KAL1 (at Xp22.3) is implicated in the Kallmann's syndrome manifesting concurrently with ovarian dysgenesis found in this family.  (+info)

A concomitant decrease in cortical and trabecular bone mass in isolated hypogonadotropic hypogonadism and gonadal dysgenesis. (2/111)

To assess the impact of hypogonadism on bone mineral density, we performed a cross-sectional study of 70 amenorrheic women, comprising 22 cases of gonadal dysgenesis and 48 cases of isolated hypogonadotropic hypogonadism (IHH). Bone mineral density was measured by DEXA at four sites: the femur neck, Ward's triangle, trochanter, and lumbar spine (L2-4). The results were compared to those of a control group consisting of 60 age-matched, normal-cycling women. Bone mineral densities around age 20 were already significantly lower at all four sites in patients with IHH and gonadal dysgenesis when compared with controls, suggesting that these patients failed to achieve peak bone mass during pubertal development. In patients with IHH, the initial BMD around age 18-20 were significantly lower at all four sites and the decrease in bone density continued rapidly during the early twenties up to age 25, and then it slowed markedly thereafter. Bone biochemical marker, ICTP and osteocalcin were significantly negatively correlated with age and remained increased until age 40, which was reminiscent of menopausal bone loss pattern such as high bone turn-over in the early twenties, followed by slow bone loss in the late twenties. In patients with gonadal dysgenesis, bone biochemical marker, ICTP and osteocalcin were also significantly negative correlated with age and remained increased until age 40, but no significant changes in BMD were noted as a function of age, which may be attributed to the small sample size and slow bone loss. These findings suggest that the initiation of prompt and timely therapeutic intervention as early as possible in the menarchal period and throughout the remainder of life, particularly during the period associated with rapid bone loss.  (+info)

A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene. (3/111)

The Wilms' tumor suppressor gene, WT1, plays an important role in the development of the urogenital system and also subsequent normal function of this system. Recently, the splice mutations in intron 9 of WT1 gene have been detected in Frasier syndrome, which is characterized by streak gonads, pseudohermaphroditism, slowly progressive nephropathy and frequent development of gonadoblastoma. Here to elucidate the molecular basis in a Japanese patient of Frasier syndrome, WT1 gene was analyzed by polymerase-chain-reaction (PCR) and direct sequencing. We identified the splice junction mutation in intron 9 of WT1, which is recognized as a mutation hot-spot in intron 9. This finding concludes that 1) the mutation in intron 9 might be the cause of Frasier syndrome, and 2) the mutation hot-spot in Japanese and Caucasian patients is similar.  (+info)

P-Element repression in Drosophila melanogaster by a naturally occurring defective telomeric P copy. (4/111)

In Drosophila melanogaster, hybrid dysgenesis occurs in progeny from crosses between females lacking P elements and males carrying P elements scattered throughout the genome. We have genetically isolated a naturally occurring P insertion at cytological location 1A, from a Tunisian population. The Nasr'Allah-P(1A) element [NA-P(1A)] has a deletion of the first 871 bp including the P promoter. It is flanked at the 3' end by telomeric associated sequences and at the 5' end by a HeT-A element sequence. The NA-P(1A) element strongly represses dysgenic sterility and P transposition. However, when testing P-promoter repression, NA-P(1A) was unable to repress a germinally expressed P-lacZ construct bearing no 5'-homology with it. Conversely, a second P-lacZ construct, in which the fusion with lacZ takes place in exon 3 of P, was successfully repressed by NA-P(1A). This suggests that NA-P(1A) repression involves a homology-dependent component.  (+info)

A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. (5/111)

We describe a patient with 46,XY partial gonadal dysgenesis (PGD) who presented with polyneuropathy. Sural nerve pathology revealed peculiar findings characterized by extensive minifascicular formation within the endoneurium and with a decreased density of myelinated fibers. We found, in the patient, a homozygous missense mutation (ATG-->ACG) at the initiating codon in exon 1 of the desert hedgehog (DHH) gene, which predicts a failure of translation of the gene. The same heterozygous mutation was found in the patient's father. This is the first report of a human DHH gene mutation, and the findings demonstrate that mutation of the DHH gene may cause 46, XY PGD associated with minifascicular neuropathy.  (+info)

Management of the impalpable testis: a six year review together with a national experience. (6/111)

The management of undescended testes remains variable, and the use of laparoscopy for localisation is controversial. This study reviews the need for laparoscopy and also assesses the current practice among a cohort of surgeons.A retrospective review of all patients undergoing orchidopexy was performed, together with a postal survey of all members of the Welsh Surgical Society. Of the 139 orchidopexies performed, the testis was deemed impalpable in 39 (28%) cases. All patients were treated with groin exploration, and only in two (5%) patients was the testis not located. From the survey, replies were received from 90 (81%) surgeons, of whom 65 (72%) were still performing orchidopexy. Forty eight (74%) surgeons performed orchidopexy between the age of 2 and 3, and only 32 (36%) performed preoperative investigations. The follow up period was variable with the majority of patients seen at six weeks. Laparoscopy for the impalpable testis is not initially warranted. An inguinal exploration is regarded as the definitive investigation. This has the advantage of providing the diagnosis and treatment in the majority of cases.  (+info)

Isolation of the human testatin gene and analysis in patients with abnormal gonadal development. (7/111)

We have previously isolated the testatin gene using a modified mRNA differential display method on RNA from developing male and female mouse gonads. This gene is specifically expressed during early testis development, immediately after the onset of the testis-determining gene SRY: The protein encoded by testatin has features that are characteristic for type 2 cystatins, a family of small inhibitors of cystein proteases such as the cathepsins. We have now isolated the human orthologue of this gene. We describe here the sequence, genomic structure, chromosomal location, and expression pattern of the human testatin gene. Like mouse testatin, human testatin is specifically expressed in the testis, suggesting that it has a function in reproduction. We have therefore also investigated whether the human testatin gene plays a role in disorders of gonadal development, by sequencing the gene in patients with gonadal dysgenesis, with true hermaphroditism, and in children with less well-defined intersex conditions. We found no sequence aberrations in these patients apart from an H109P polymorphism which was also found in fertile controls. This is the first genetic analysis of testatin in humans.  (+info)

P-Element repression in Drosophila melanogaster by variegating clusters of P-lacZ-white transgenes. (8/111)

In Drosophila, clusters of P transgenes (P-lac-w) display a variegating phenotype for the w marker. In addition, X-ray-induced rearrangements of chromosomes bearing such clusters may lead to enhancement of the variegated phenotype. Since P-lacZ transgenes in subtelomeric heterochromatin have some P-element repression abilities, we tested whether P-lac-w clusters also have the capacity to repress P-element activity in the germline. One cluster (T-1), located on a rearranged chromosome (T2;3) and derived from a line bearing a variegating tandem array of seven P-lac-w elements, partially represses the dysgenic sterility (GD sterility) induced by P elements. This cluster also strongly represses in trans the expression of P-lacZ elements in the germline. This latter suppression shows a maternal effect. Finally, the combination of variegating P-lac-w clusters and a single P-lacZ reporter inserted in subtelomeric heterochromatic sequences at the X chromosome telomere (cytological site 1A) leads to strong repression of dysgenic sterility. These results show that repression of P-induced dysgenic sterility can be elicited in the absence of P elements encoding a polypeptide repressor and that a transgene cluster can repress the expression of a single homologous transgene at a nonallelic position. Implications for models of transposable element silencing are discussed.  (+info)

Gonadal dysgenesis is a condition characterized by the abnormal development of the gonads, which are the reproductive organs that produce sex hormones and gametes (sperm or eggs). In individuals with gonadal dysgenesis, the gonads may be underdeveloped, structurally abnormal, or completely absent. This condition can affect people of any gender and is often associated with other genetic disorders, such as Turner or Klinefelter syndromes.

The clinical presentation of gonadal dysgenesis varies widely depending on the severity of the disorder and the presence of other associated conditions. Some individuals may have normal sexual development and fertility, while others may experience delayed puberty, infertility, or ambiguous genitalia. Gonadal dysgenesis can also increase the risk of developing gonadal tumors, particularly in individuals with complete or partial absence of the gonads.

The diagnosis of gonadal dysgenesis is typically made through a combination of clinical evaluation, imaging studies, and genetic testing. Treatment may include hormone replacement therapy to support sexual development and prevent complications associated with hormonal imbalances. In some cases, surgical removal of the gonads may be recommended to reduce the risk of tumor development.

Gonadal dysgenesis, 46,XY is a medical condition where the gonads (testes) fail to develop or function properly in an individual with a 46,XY karyotype (a normal male chromosomal composition). This means that the person has one X and one Y chromosome, but their gonads do not develop into fully functional testes. As a result, the person may have ambiguous genitalia or female external genitalia, and they will typically not produce enough or any male hormones. The condition can also be associated with an increased risk of developing germ cell tumors in the dysgenetic gonads.

The severity of gonadal dysgenesis, 46,XY can vary widely, and it may be accompanied by other developmental abnormalities or syndromes. Treatment typically involves surgical removal of the dysgenetic gonads to reduce the risk of tumor development, as well as hormone replacement therapy to support normal sexual development and reproductive function. The underlying cause of gonadal dysgenesis, 46,XY is not always known, but it can be associated with genetic mutations or chromosomal abnormalities.

Gonadal dysgenesis, mixed is a medical condition that refers to the abnormal development and function of the gonads (ovaries or testes). In this form of gonadal dysgenesis, both ovarian and testicular tissues are present in the same individual, but they are not properly organized or functioning. This can lead to ambiguous genitalia, infertility, and an increased risk of developing gonadal tumors. The condition is often associated with genetic disorders such as Turner, Klinefelter, or other sex chromosome abnormalities.

Gonadoblastoma is a rare, typically benign, slow-growing tumor that primarily affects the gonads (ovaries or testes). It most commonly occurs in individuals with disorders of sexual development, particularly those with gonadal dysgenesis and a 46,XY karyotype. The tumor is composed of germ cells and sex cord stromal cells, which differentiate into various cell types found within the gonads.

Gonadoblastomas are usually asymptomatic and are often discovered incidentally during imaging studies or surgical procedures for other conditions. In some cases, they may produce hormones leading to precocious puberty or virilization. Although typically benign, there is a risk of malignant transformation into germ cell tumors such as dysgerminoma, seminoma, or teratoma. Regular follow-up and monitoring are essential for early detection and management of potential complications. Treatment usually involves surgical removal of the affected gonad.

Turner Syndrome is a genetic disorder that affects females, caused by complete or partial absence of one X chromosome. The typical karyotype is 45,X0 instead of the normal 46,XX in women. This condition leads to distinctive physical features and medical issues in growth, development, and fertility. Characteristic features include short stature, webbed neck, low-set ears, and swelling of the hands and feet. Other potential symptoms can include heart defects, hearing and vision problems, skeletal abnormalities, kidney issues, and learning disabilities. Not all individuals with Turner Syndrome will have every symptom, but most will require medical interventions and monitoring throughout their lives to address various health concerns associated with the condition.

The Sex-Determining Region Y (SRY) protein is a transcription factor that plays a critical role in male sex determination. It is encoded by the SRY gene, which is located on the Y chromosome in humans and many other mammal species. The primary function of the SRY protein is to initiate the development of the testes during embryonic development.

In the absence of a functional SRY protein, the gonads will develop into ovaries. With a functional SRY protein, the gonads will develop into testes, which then produce androgens, including testosterone, that are necessary for the development of male secondary sexual characteristics. Mutations in the SRY gene can lead to sex reversal, where an individual with a Y chromosome develops as a female due to non-functional or absent SRY protein.

Dermatoglyphics is the study of the fingerprints, palm prints, and other skin ridge patterns found on the hands and feet. These patterns are formed during fetal development and are generally considered to be unique to each individual. Dermatoglyphics can provide important clues about a person's genetic makeup and health status, and they are often used in forensic investigations to help identify individuals. In medicine, dermatoglyphics may be used to help diagnose certain genetic disorders or birth defects.

Thyroid dysgenesis is a developmental disorder that affects the thyroid gland, which is a small butterfly-shaped gland located in the front of the neck. The thyroid gland is responsible for producing hormones that regulate metabolism, growth, and development.

In thyroid dysgenesis, the thyroid gland fails to develop properly during fetal development or early childhood. This can result in a range of abnormalities, including:

* Athyreosis: Complete absence of the thyroid gland.
* Hypoplasia: Underdevelopment of the thyroid gland, resulting in a smaller than normal gland.
* Ectopy: Displacement of the thyroid gland from its normal location in the neck to elsewhere in the body, such as the chest or tongue.
* Heterotopy: Presence of thyroid tissue in abnormal locations, such as within the thymus gland or along the course of the thyroglossal duct.

Thyroid dysgenesis can lead to hypothyroidism, a condition characterized by low levels of thyroid hormones in the body. Symptoms of hypothyroidism may include fatigue, weight gain, cold intolerance, constipation, dry skin, and depression. Treatment typically involves replacement therapy with synthetic thyroid hormones.

Gonadal dysgenesis, 46,XX is a medical condition where an individual with a 46,XX karyotype has underdeveloped or absent gonads (ovaries). Normally, individuals with a 46,XX karyotype have ovaries that produce female sex hormones and develop into reproductive organs. However, in cases of gonadal dysgenesis, the gonads do not develop properly and may appear as streak gonads, which lack germ cells and are incapable of producing sex hormones or gametes (eggs).

Individuals with 46,XX gonadal dysgenesis often have female external genitalia but may have primary amenorrhea (absence of menstruation) due to the underdeveloped or absent ovaries. They may also have other features such as short stature, webbed neck, and intellectual disability, depending on the underlying cause of the condition.

The underlying causes of 46,XX gonadal dysgenesis can vary, including genetic mutations, chromosomal abnormalities, or exposure to environmental factors during fetal development. Some individuals with this condition may have an increased risk of developing gonadal tumors, so regular monitoring and follow-up care are essential.

Disorders of Sex Development (DSD) are a group of conditions that occur when there is a difference in the development and assignment of sex characteristics. These differences may be apparent at birth, at puberty, or later in life. DSD can affect chromosomes, gonads, genitals, or secondary sexual characteristics, and can result from genetic mutations or environmental factors during fetal development.

DSDs were previously referred to as "intersex" conditions, but the term "Disorders of Sex Development" is now preferred in medical settings because it is more descriptive and less stigmatizing. DSDs are not errors or abnormalities, but rather variations in human development that require sensitive and individualized care.

The diagnosis and management of DSD can be complex and may involve a team of healthcare providers, including endocrinologists, urologists, gynecologists, psychologists, and genetic counselors. Treatment options depend on the specific type of DSD and may include hormone therapy, surgery, or other interventions to support physical and emotional well-being.

Sex chromosome aberrations refer to structural and numerical abnormalities in the sex chromosomes, which are typically represented as X and Y chromosomes in humans. These aberrations can result in variations in the number of sex chromosomes, such as Klinefelter syndrome (47,XXY), Turner syndrome (45,X), and Jacobs/XYY syndrome (47,XYY). They can also include structural changes, such as deletions, duplications, or translocations of sex chromosome material.

Sex chromosome aberrations may lead to a range of phenotypic effects, including differences in physical characteristics, cognitive development, fertility, and susceptibility to certain health conditions. The manifestation and severity of these impacts can vary widely depending on the specific type and extent of the aberration, as well as individual genetic factors and environmental influences.

It is important to note that while sex chromosome aberrations may pose challenges and require medical management, they do not inherently define or limit a person's potential, identity, or worth. Comprehensive care, support, and education can help individuals with sex chromosome aberrations lead fulfilling lives and reach their full potential.

'46, XY Disorders of Sex Development' (DSD) is a term used to describe conditions in which individuals are born with chromosomes, gonads, or genitals that do not fit typical definitions of male or female. In these cases, the individual has 46 chromosomes, including one X and one Y chromosome (46, XY), which would typically result in the development of male characteristics. However, for various reasons, the sexual differentiation process may be disrupted, leading to atypical development of the internal and/or external sex organs.

There are several possible causes of 46, XY DSD, including genetic mutations, hormonal imbalances, or anatomical abnormalities. These conditions can range from mild to severe in terms of their impact on physical health and sexual function, and they may also have psychological and social implications.

Examples of 46, XY DSD include complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), and disorders of gonadal development such as Swyer syndrome. Treatment for 46, XY DSD may involve surgical intervention, hormone replacement therapy, and/or psychological support.

I'm sorry for any confusion, but "Frasier Syndrome" is not a recognized medical condition or syndrome in the standard medical literature. It seems like it might be a term that is specific to a certain context or fictional work. In popular culture, "Frasier" is a television show about a character named Frasier Crane, and it's possible that "Frasier Syndrome" could refer to something within the realm of that fiction. However, without more specific information about where you encountered this term, I cannot provide an accurate definition.

Dysgerminoma is a type of germ cell tumor that develops in the ovaries. It is a malignant (cancerous) tumor that primarily affects girls and women of reproductive age, although it can occur at any age. Dysgerminomas are composed of large, round, or polygonal cells with clear cytoplasm and distinct cell borders, arranged in nests or sheets. They may also contain lymphoid aggregates and may produce hormones such as estrogen or testosterone.

Dysgerminomas are usually unilateral (affecting one ovary), but they can be bilateral (affecting both ovaries) in about 10-15% of cases. They tend to grow and spread rapidly, so early detection and treatment are crucial for a favorable prognosis.

The standard treatment for dysgerminoma is surgical removal of the affected ovary or ovaries, followed by chemotherapy with agents such as bleomycin, etoposide, and cisplatin (BEP). With appropriate treatment, the five-year survival rate for patients with dysgerminoma is high, ranging from 80% to 95%.

Karyotyping is a medical laboratory test used to study the chromosomes in a cell. It involves obtaining a sample of cells from a patient, usually from blood or bone marrow, and then staining the chromosomes so they can be easily seen under a microscope. The chromosomes are then arranged in pairs based on their size, shape, and other features to create a karyotype. This visual representation allows for the identification and analysis of any chromosomal abnormalities, such as extra or missing chromosomes, or structural changes like translocations or inversions. These abnormalities can provide important information about genetic disorders, diseases, and developmental problems.

Mosaicism, in the context of genetics and medicine, refers to the presence of two or more cell lines with different genetic compositions in an individual who has developed from a single fertilized egg. This means that some cells have one genetic makeup, while others have a different genetic makeup. This condition can occur due to various reasons such as errors during cell division after fertilization.

Mosaicism can involve chromosomes (where whole or parts of chromosomes are present in some cells but not in others) or it can involve single genes (where a particular gene is present in one form in some cells and a different form in others). The symptoms and severity of mosaicism can vary widely, depending on the type and location of the genetic difference and the proportion of cells that are affected. Some individuals with mosaicism may not experience any noticeable effects, while others may have significant health problems.

Sex determination analysis is a medical or biological examination used to establish the genetic or phenotypic sex of an individual. This can be done through various methods, including:

1. Genetic testing: Examination of an individual's DNA to identify the presence of specific sex chromosomes (XX for females and XY for males). This is typically performed through a blood or tissue sample.
2. Chromosomal analysis: Microscopic examination of an individual's chromosomes to determine their number and structure. In humans, females typically have 46 chromosomes, including two X chromosomes (46,XX), while males typically have 46 chromosomes, including one X and one Y chromosome (46,XY).
3. Phenotypic analysis: Observation of an individual's physical characteristics, such as the presence or absence of certain sex organs or secondary sexual characteristics, to determine their phenotypic sex.

Sex determination analysis is used in various medical and research contexts, including prenatal testing, diagnosis of disorders of sex development (DSDs), forensic investigations, and population studies. It's important to note that while sex determination analysis can provide information about an individual's genetic or phenotypic sex, it does not necessarily reflect their gender identity, which is a personal sense of being male, female, or something else.

Sexual development is a multidimensional process that includes physical, cognitive, emotional, and social aspects. It refers to the changes and growth that occur in an individual from infancy to adulthood related to sexuality, reproduction, and gender identity. This process involves the maturation of primary and secondary sex characteristics, the development of sexual attraction and desire, and the acquisition of knowledge about sexual health and relationships.

Physical aspects of sexual development include the maturation of reproductive organs, hormonal changes, and the development of secondary sexual characteristics such as breast development in females and facial hair growth in males. Cognitive aspects involve the development of sexual knowledge, attitudes, and values. Emotional aspects refer to the emergence of sexual feelings, desires, and fantasies, as well as the ability to form intimate relationships. Social aspects include the development of gender roles and identities, communication skills related to sexuality, and the ability to navigate social norms and expectations around sexual behavior.

Sexual development is a complex and ongoing process that is influenced by various factors such as genetics, hormones, environment, culture, and personal experiences. It is important to note that sexual development varies widely among individuals, and there is no one "normal" or "correct" way for it to unfold.

A neoplasm of gonadal tissue refers to an abnormal growth or tumor that develops in the reproductive organs, specifically the ovaries in women and the testes in men. These tumors can be benign (non-cancerous) or malignant (cancerous), and their growth can interfere with the normal function of the gonads.

Gonadal tissue neoplasms can have various causes, including genetic mutations, environmental factors, and hormonal imbalances. The symptoms of these tumors may vary depending on their size, location, and type, but they can include pelvic pain, bloating, abnormal menstruation, or a palpable mass in the affected area.

It is essential to diagnose and treat gonadal tissue neoplasms as early as possible to prevent complications such as infertility, metastasis, or death. Diagnostic procedures may include imaging tests, blood tests, and biopsies, while treatment options may include surgery, radiation therapy, chemotherapy, or hormone therapy.

The clitoris is an important female sex organ that is primarily responsible for sexual arousal and pleasure. It is a small, highly sensitive piece of tissue located at the front of the vulva, where the labia minora meet. The clitoris is made up of two parts: the visible part, known as the glans clitoris, and the hidden part, called the corpora cavernosa and crura.

The glans clitoris is a small knob-like structure that is covered by a hood, or prepuce, and is located at the top of the vulva. It contains a high concentration of nerve endings, making it highly sensitive to touch and stimulation. The corpora cavernosa and crura are the internal parts of the clitoris, which are made up of sponge-like erectile tissue that becomes engorged with blood during sexual arousal, leading to clitoral erection.

The clitoris plays a crucial role in female sexual response and pleasure. During sexual arousal, the clitoris swells and becomes more sensitive to touch, which can lead to orgasm. The clitoris is also an important source of sexual pleasure during masturbation and partnered sexual activity. Despite its importance in female sexuality, the clitoris has historically been overlooked or stigmatized in many cultures, leading to a lack of understanding and education about this vital organ.

"SRY" (Sex Determining Region Y) is not a gene itself but a specific region on the Y chromosome that contains the genetic information necessary to initiate male sex determination. The SRY region encodes a protein called the testis-determining factor (TDF), which plays a crucial role in the development of the male phenotype by triggering the differentiation of the gonadal ridge into testes.

The SRY gene is typically found only on the Y chromosome and is considered one of the primary genetic factors that distinguish males from females in many mammalian species, including humans. Mutations or abnormalities in the SRY region can lead to sex chromosome-related disorders of sexual development (DSDs), such as Swyer syndrome or XY female disorder of sex development, where individuals with a 46,XY karyotype develop female phenotypes due to the absence or dysfunction of the SRY protein.

The X chromosome is one of the two types of sex-determining chromosomes in humans (the other being the Y chromosome). It's one of the 23 pairs of chromosomes that make up a person's genetic material. Females typically have two copies of the X chromosome (XX), while males usually have one X and one Y chromosome (XY).

The X chromosome contains hundreds of genes that are responsible for the production of various proteins, many of which are essential for normal bodily functions. Some of the critical roles of the X chromosome include:

1. Sex Determination: The presence or absence of the Y chromosome determines whether an individual is male or female. If there is no Y chromosome, the individual will typically develop as a female.
2. Genetic Disorders: Since females have two copies of the X chromosome, they are less likely to be affected by X-linked genetic disorders than males. Males, having only one X chromosome, will express any recessive X-linked traits they inherit.
3. Dosage Compensation: To compensate for the difference in gene dosage between males and females, a process called X-inactivation occurs during female embryonic development. One of the two X chromosomes is randomly inactivated in each cell, resulting in a single functional copy per cell.

The X chromosome plays a crucial role in human genetics and development, contributing to various traits and characteristics, including sex determination and dosage compensation.

Genitalia, also known as the genitals, refer to the reproductive organs located in the pelvic region. In males, these include the penis and testicles, while in females, they consist of the vulva, vagina, clitoris, and ovaries. Genitalia are essential for sexual reproduction and can also be associated with various medical conditions, such as infections, injuries, or congenital abnormalities.

Gonads are the reproductive organs that produce gametes (sex cells) and sex hormones. In males, the gonads are the testes, which produce sperm and testosterone. In females, the gonads are the ovaries, which produce eggs and estrogen and progesterone. The development, function, and regulation of the gonads are crucial for reproductive health and fertility.

Steroidogenic Factor 1 (SF-1 or NR5A1) is a nuclear receptor protein that functions as a transcription factor, playing a crucial role in the development and regulation of the endocrine system. It is involved in the differentiation and maintenance of steroidogenic tissues such as the adrenal glands, gonads (ovaries and testes), and the hypothalamus and pituitary glands in the brain.

SF-1 regulates the expression of genes that are essential for steroid hormone biosynthesis, including enzymes involved in the production of cortisol, aldosterone, and sex steroids (androgens, estrogens). Mutations in the SF-1 gene can lead to various disorders related to sexual development, adrenal function, and fertility.

In summary, Steroidogenic Factor 1 is a critical transcription factor that regulates the development and function of steroidogenic tissues and the biosynthesis of steroid hormones.

The Y chromosome is one of the two sex-determining chromosomes in humans and many other animals, along with the X chromosome. The Y chromosome contains the genetic information that helps to determine an individual's sex as male. It is significantly smaller than the X chromosome and contains fewer genes.

The Y chromosome is present in males, who inherit it from their father. Females, on the other hand, have two X chromosomes, one inherited from each parent. The Y chromosome includes a gene called SRY (sex-determining region Y), which initiates the development of male sexual characteristics during embryonic development.

It is worth noting that the Y chromosome has a relatively high rate of genetic mutation and degeneration compared to other chromosomes, leading to concerns about its long-term viability in human evolution. However, current evidence suggests that the Y chromosome has been stable for at least the past 25 million years.

DAX-1 (Dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) is a nuclear receptor protein that functions as a transcriptional regulator. It is also known as NR0B1 (Nuclear Receptor Subfamily 0, Group B, Member 1).

DAX-1 plays crucial roles in various developmental processes, including sexual differentiation and adrenal gland development. Mutations in the DAX-1 gene have been associated with X-linked adrenal hypoplasia congenita (AHC), a condition characterized by defective adrenal gland development and primary adrenal insufficiency.

The term "Orphan Nuclear Receptor" refers to a class of nuclear receptors for which no natural ligand has been identified yet. DAX-1 is one such orphan nuclear receptor, as its specific endogenous ligand remains unknown. However, recent studies suggest that steroids and other small molecules might interact with DAX-1 and modulate its activity.

"Sex determination processes" refer to the series of genetic and biological events that occur during embryonic and fetal development which lead to the development of male or female physical characteristics. In humans, this process is typically determined by the presence or absence of a Y chromosome in the fertilized egg. If the egg has a Y chromosome, it will develop into a male (genetically XY) and if it does not have a Y chromosome, it will develop into a female (genetically XX).

The sex determination process involves the activation and repression of specific genes on the sex chromosomes, which direct the development of the gonads (ovaries or testes) and the production of hormones that influence the development of secondary sexual characteristics. This includes the development of internal and external genitalia, as well as other sex-specific physical traits.

It is important to note that while sex is typically determined by genetics and biology, gender identity is a separate construct that can be self-identified and may not align with an individual's biological sex.

Sex chromosomes, often denoted as X and Y, are one of the 23 pairs of human chromosomes found in each cell of the body. Normally, females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). The sex chromosomes play a significant role in determining the sex of an individual. They contain genes that contribute to physical differences between men and women. Any variations or abnormalities in the number or structure of these chromosomes can lead to various genetic disorders and conditions related to sexual development and reproduction.

Chromosome banding is a technique used in cytogenetics to identify and describe the physical structure and organization of chromosomes. This method involves staining the chromosomes with specific dyes that bind differently to the DNA and proteins in various regions of the chromosome, resulting in a distinct pattern of light and dark bands when viewed under a microscope.

The most commonly used banding techniques are G-banding (Giemsa banding) and R-banding (reverse banding). In G-banding, the chromosomes are stained with Giemsa dye, which preferentially binds to the AT-rich regions, creating a characteristic banding pattern. The bands are numbered from the centromere (the constriction point where the chromatids join) outwards, with the darker bands (rich in A-T base pairs and histone proteins) labeled as "q" arms and the lighter bands (rich in G-C base pairs and arginine-rich proteins) labeled as "p" arms.

R-banding, on the other hand, uses a different staining procedure that results in a reversed banding pattern compared to G-banding. The darker R-bands correspond to the lighter G-bands, and vice versa. This technique is particularly useful for identifying and analyzing specific regions of chromosomes that may be difficult to visualize with G-banding alone.

Chromosome banding plays a crucial role in diagnosing genetic disorders, identifying chromosomal abnormalities, and studying the structure and function of chromosomes in both clinical and research settings.

Amenorrhea is a medical condition characterized by the absence or cessation of menstrual periods in women of reproductive age. It can be categorized as primary amenorrhea, when a woman who has not yet had her first period at the expected age (usually around 16 years old), or secondary amenorrhea, when a woman who has previously had regular periods stops getting them for six months or more.

There are various causes of amenorrhea, including hormonal imbalances, pregnancy, breastfeeding, menopause, extreme weight loss or gain, eating disorders, intense exercise, stress, chronic illness, tumors, and certain medications or medical treatments. In some cases, amenorrhea may indicate an underlying medical condition that requires further evaluation and treatment.

Amenorrhea can have significant impacts on a woman's health and quality of life, including infertility, bone loss, and emotional distress. Therefore, it is essential to consult with a healthcare provider if you experience amenorrhea or missed periods to determine the underlying cause and develop an appropriate treatment plan.

Eye abnormalities refer to any structural or functional anomalies that affect the eye or its surrounding tissues. These abnormalities can be present at birth (congenital) or acquired later in life due to various factors such as injury, disease, or aging. Some examples of eye abnormalities include:

1. Strabismus: Also known as crossed eyes, strabismus is a condition where the eyes are misaligned and point in different directions.
2. Nystagmus: This is an involuntary movement of the eyes that can be horizontal, vertical, or rotatory.
3. Cataracts: A cataract is a clouding of the lens inside the eye that can cause vision loss.
4. Glaucoma: This is a group of eye conditions that damage the optic nerve and can lead to vision loss.
5. Retinal disorders: These include conditions such as retinal detachment, macular degeneration, and diabetic retinopathy.
6. Corneal abnormalities: These include conditions such as keratoconus, corneal ulcers, and Fuchs' dystrophy.
7. Orbital abnormalities: These include conditions such as orbital tumors, thyroid eye disease, and Graves' ophthalmopathy.
8. Ptosis: This is a condition where the upper eyelid droops over the eye.
9. Color blindness: A condition where a person has difficulty distinguishing between certain colors.
10. Microphthalmia: A condition where one or both eyes are abnormally small.

These are just a few examples of eye abnormalities, and there are many others that can affect the eye and its functioning. If you suspect that you have an eye abnormality, it is important to consult with an ophthalmologist for proper diagnosis and treatment.

The testis, also known as the testicle, is a male reproductive organ that is part of the endocrine system. It is located in the scrotum, outside of the abdominal cavity. The main function of the testis is to produce sperm and testosterone, the primary male sex hormone.

The testis is composed of many tiny tubules called seminiferous tubules, where sperm are produced. These tubules are surrounded by a network of blood vessels, nerves, and supportive tissues. The sperm then travel through a series of ducts to the epididymis, where they mature and become capable of fertilization.

Testosterone is produced in the Leydig cells, which are located in the interstitial tissue between the seminiferous tubules. Testosterone plays a crucial role in the development and maintenance of male secondary sexual characteristics, such as facial hair, deep voice, and muscle mass. It also supports sperm production and sexual function.

Abnormalities in testicular function can lead to infertility, hormonal imbalances, and other health problems. Regular self-examinations and medical check-ups are recommended for early detection and treatment of any potential issues.

The anterior eye segment refers to the front portion of the eye, which includes the cornea, iris, ciliary body, and lens. The cornea is the clear, dome-shaped surface at the front of the eye that refracts light entering the eye and provides protection. The iris is the colored part of the eye that controls the amount of light reaching the retina by adjusting the size of the pupil. The ciliary body is a muscle that changes the shape of the lens to focus on objects at different distances. The lens is a transparent structure located behind the iris that further refracts light to provide a clear image. Together, these structures work to focus light onto the retina and enable vision.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

Agenesis of the corpus callosum is a birth defect in which the corpus callosum, the part of the brain that connects the two hemispheres and allows them to communicate, fails to develop normally during fetal development. In cases of agenesis of the corpus callosum, the corpus callosum is partially or completely absent.

This condition can vary in severity and may be associated with other brain abnormalities. Some individuals with agenesis of the corpus callosum may have normal intelligence and few symptoms, while others may have intellectual disability, developmental delays, seizures, vision problems, and difficulties with movement and coordination. The exact cause of agenesis of the corpus callosum is not always known, but it can be caused by genetic factors or exposure to certain medications or environmental toxins during pregnancy.

SOX9 (SRY-related HMG-box gene 9) is a transcription factor that belongs to the SOX family of proteins, which are characterized by a high mobility group (HMG) box DNA-binding domain. SOX9 plays crucial roles in various developmental processes, including sex determination, chondrogenesis, and neurogenesis.

As a transcription factor, SOX9 binds to specific DNA sequences in the promoter or enhancer regions of its target genes and regulates their expression. In the context of sex determination, SOX9 is essential for the development of Sertoli cells in the male gonad, which are responsible for supporting sperm production. SOX9 also plays a role in maintaining the undifferentiated state of stem cells and promoting cell differentiation in various tissues.

Mutations in the SOX9 gene have been associated with several human genetic disorders, including campomelic dysplasia, a severe skeletal disorder characterized by bowed legs, and sex reversal in individuals with XY chromosomes.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Transcription factors are proteins that play a crucial role in regulating gene expression by controlling the transcription of DNA to messenger RNA (mRNA). They function by binding to specific DNA sequences, known as response elements, located in the promoter region or enhancer regions of target genes. This binding can either activate or repress the initiation of transcription, depending on the properties and interactions of the particular transcription factor. Transcription factors often act as part of a complex network of regulatory proteins that determine the precise spatiotemporal patterns of gene expression during development, differentiation, and homeostasis in an organism.

Dibutyl phthalate (DBP) is a synthetic chemical compound that belongs to a class of chemicals called phthalates. It is a colorless, oily liquid with a mild odor and is widely used as a plasticizer to make plastics more flexible and durable. DBP is commonly added to polyvinyl chloride (PVC) products such as vinyl flooring, wall coverings, shower curtains, and consumer products like cosmetics, personal care products, and cleaning solutions.

In medical terms, DBP has been identified as a reproductive toxicant and endocrine disruptor, which means it can interfere with the body's hormonal system and potentially affect reproductive health. Studies have shown that exposure to DBP during pregnancy may be associated with adverse outcomes such as reduced fetal growth, abnormalities in male reproductive development, and behavioral problems in children.

Therefore, it is important to limit exposure to DBP and other phthalates, especially for pregnant women and young children. Some steps you can take to reduce your exposure include avoiding plastic containers with the recycling codes 3 or 7 (which may contain phthalates), choosing personal care products that are labeled "phthalate-free," and using natural cleaning products whenever possible.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Genetic hybridization is a biological process that involves the crossing of two individuals from different populations or species, which can lead to the creation of offspring with new combinations of genetic material. This occurs when the gametes (sex cells) from each parent combine during fertilization, resulting in a zygote with a unique genetic makeup.

In genetics, hybridization can also refer to the process of introducing new genetic material into an organism through various means, such as genetic engineering or selective breeding. This type of hybridization is often used in agriculture and biotechnology to create crops or animals with desirable traits, such as increased disease resistance or higher yields.

It's important to note that the term "hybrid" can refer to both crosses between different populations within a single species (intraspecific hybrids) and crosses between different species (interspecific hybrids). The latter is often more challenging, as significant genetic differences between the two parental species can lead to various reproductive barriers, making it difficult for the hybrid offspring to produce viable offspring of their own.

Congenital hypothyroidism is a medical condition characterized by the partial or complete absence of thyroid hormone production in the baby's body at birth. The thyroid gland, which is located in the front of the neck, produces hormones that are essential for normal growth and development of the brain and body.

Congenital hypothyroidism can occur due to various reasons such as the absence or abnormal development of the thyroid gland, or a defect in the production or regulation of thyroid hormones. In some cases, it may be caused by genetic mutations that affect the development or function of the thyroid gland.

If left untreated, congenital hypothyroidism can lead to mental and physical retardation, growth problems, and other health issues. Therefore, it is important to diagnose and treat this condition as early as possible, usually within the first few weeks of life. Treatment typically involves replacing the missing thyroid hormones with synthetic medications, which are safe and effective when administered under a doctor's supervision.

Testicular diseases refer to a range of conditions that affect the testicles, the male reproductive organs located in the scrotum. These diseases can affect either one or both testicles and may cause pain, swelling, or impact fertility. Here are some examples of testicular diseases:

1. Testicular cancer: A malignant tumor that develops in the testicle. It is a relatively rare cancer but is highly treatable if detected early.
2. Testicular torsion: A surgical emergency that occurs when the spermatic cord, which supplies blood to the testicle, becomes twisted, cutting off the blood flow.
3. Epididymitis: An infection or inflammation of the epididymis, a coiled tube that stores and carries sperm from the testicle.
4. Orchitis: An infection or inflammation of the testicle itself. It can occur on its own or as a complication of mumps.
5. Hydrocele: A fluid-filled sac that forms around the testicle, causing swelling.
6. Varicocele: Enlarged veins in the scrotum that can cause pain and affect fertility.
7. Inguinal hernia: A condition where a portion of the intestine or fat protrudes through a weakened area in the abdominal wall, often appearing as a bulge in the groin or scrotum.
8. Testicular trauma: Injury to the testicle, which can result from accidents, sports injuries, or other causes.
9. Undescended testicles: A condition where one or both testicles fail to descend from the abdomen into the scrotum before birth.

It is essential for men to perform regular self-examinations to check for any unusual lumps, swelling, or pain in the testicles and seek medical attention if they notice any changes.

DNA-binding proteins are a type of protein that have the ability to bind to DNA (deoxyribonucleic acid), the genetic material of organisms. These proteins play crucial roles in various biological processes, such as regulation of gene expression, DNA replication, repair and recombination.

The binding of DNA-binding proteins to specific DNA sequences is mediated by non-covalent interactions, including electrostatic, hydrogen bonding, and van der Waals forces. The specificity of binding is determined by the recognition of particular nucleotide sequences or structural features of the DNA molecule.

DNA-binding proteins can be classified into several categories based on their structure and function, such as transcription factors, histones, and restriction enzymes. Transcription factors are a major class of DNA-binding proteins that regulate gene expression by binding to specific DNA sequences in the promoter region of genes and recruiting other proteins to modulate transcription. Histones are DNA-binding proteins that package DNA into nucleosomes, the basic unit of chromatin structure. Restriction enzymes are DNA-binding proteins that recognize and cleave specific DNA sequences, and are widely used in molecular biology research and biotechnology applications.

Oophoritis is a medical term that refers to the inflammation of one or both ovaries. It is often caused by an infection, which can be bacterial, viral, or fungal in nature. The infection can spread to the ovaries from other parts of the reproductive system, such as the fallopian tubes or the uterus.

Oophoritis can cause symptoms such as pelvic pain, abdominal cramping, irregular menstrual bleeding, and fever. In some cases, it may lead to complications such as infertility or chronic pelvic pain. Treatment typically involves antibiotics to clear the infection, as well as pain relief medications and anti-inflammatory drugs to manage symptoms.

It is important to note that oophoritis can be a serious condition, especially if left untreated. If you are experiencing any symptoms of oophoritis, it is important to seek medical attention promptly.

Female genitalia refer to the reproductive and sexual organs located in the female pelvic region. They are primarily involved in reproduction, menstruation, and sexual activity. The external female genitalia, also known as the vulva, include the mons pubis, labia majora, labia minora, clitoris, and the external openings of the urethra and vagina. The internal female genitalia consist of the vagina, cervix, uterus, fallopian tubes, and ovaries. These structures work together to facilitate menstruation, fertilization, pregnancy, and childbirth.

An ovary is a part of the female reproductive system in which ova or eggs are produced through the process of oogenesis. They are a pair of solid, almond-shaped structures located one on each side of the uterus within the pelvic cavity. Each ovary measures about 3 to 5 centimeters in length and weighs around 14 grams.

The ovaries have two main functions: endocrine (hormonal) function and reproductive function. They produce and release eggs (ovulation) responsible for potential fertilization and development of an embryo/fetus during pregnancy. Additionally, they are essential in the production of female sex hormones, primarily estrogen and progesterone, which regulate menstrual cycles, sexual development, and reproduction.

During each menstrual cycle, a mature egg is released from one of the ovaries into the fallopian tube, where it may be fertilized by sperm. If not fertilized, the egg, along with the uterine lining, will be shed, leading to menstruation.

The corpus luteum is a temporary endocrine structure that forms in the ovary after an oocyte (egg) has been released from a follicle during ovulation. It's formed by the remaining cells of the ruptured follicle, which transform into large, hormone-secreting cells.

The primary function of the corpus luteum is to produce progesterone and, to a lesser extent, estrogen during the menstrual cycle or pregnancy. Progesterone plays a crucial role in preparing the uterus for potential implantation of a fertilized egg and maintaining the early stages of pregnancy. If pregnancy does not occur, the corpus luteum will typically degenerate and stop producing hormones after approximately 10-14 days, leading to menstruation.

However, if pregnancy occurs, the developing embryo starts to produce human chorionic gonadotropin (hCG), which signals the corpus luteum to continue secreting progesterone and estrogen until the placenta takes over hormonal production, usually around the end of the first trimester.

Physiology is the scientific study of the normal functions and mechanisms of living organisms, including all of their biological systems, organs, cells, and biomolecules. It focuses on how various bodily functions are regulated, coordinated, and integrated to maintain a healthy state in an organism. This field encompasses a wide range of areas such as cellular physiology, neurophysiology, cardiovascular physiology, respiratory physiology, renal physiology, endocrine physiology, reproductive physiology, and exercise physiology, among others. Physiologists use a combination of experimental and theoretical approaches to understand the principles underlying normal biological function and to investigate how these functions are altered in various disease states.

The uterus, also known as the womb, is a hollow, muscular organ located in the female pelvic cavity, between the bladder and the rectum. It has a thick, middle layer called the myometrium, which is composed of smooth muscle tissue, and an inner lining called the endometrium, which provides a nurturing environment for the fertilized egg to develop into a fetus during pregnancy.

The uterus is where the baby grows and develops until it is ready for birth through the cervix, which is the lower, narrow part of the uterus that opens into the vagina. The uterus plays a critical role in the menstrual cycle as well, by shedding its lining each month if pregnancy does not occur.

Chorionic Gonadotropin (hCG) is a hormone that is produced during pregnancy. It is produced by the placenta after implantation of the fertilized egg in the uterus. The main function of hCG is to prevent the disintegration of the corpus luteum, which is a temporary endocrine structure that forms in the ovary after ovulation and produces progesterone during early pregnancy. Progesterone is essential for maintaining the lining of the uterus and supporting the pregnancy.

hCG can be detected in the blood or urine as early as 10 days after conception, and its levels continue to rise throughout the first trimester of pregnancy. In addition to its role in maintaining pregnancy, hCG is also used as a clinical marker for pregnancy and to monitor certain medical conditions such as gestational trophoblastic diseases.

I apologize for any confusion, but "books" is a general term that refers to bound sets of pages that are printed or written with text, illustrations, or signs, and are meant to be read, studied, or consulted. It does not have a specific medical definition. If you're looking for information about a specific medical term or concept, please let me know and I'd be happy to help!

Pure gonadal dysgenesis 46,XX also known as XX gonadal dysgenesis Pure gonadal dysgenesis 46,XY also known as XY gonadal ... XY gonadal dysgenesis persons. Mixed gonadal dysgenesis, also known as X0/XY mosaicism or partial gonadal dysgenesis, is a sex ... 46,XX pure gonadal dysgenesis was first reported in 1960. 46,XY pure gonadal dysgenesis, also known as Swyer syndrome, was ... dysgenesis Mixed gonadal dysgenesis also known as partial gonadal dysgenesis, and 45,X/46,XY mosaicism Turner syndrome also ...
Gonadal abnormalities. Gonadal dysgenesis (primary amenorrhea 80%) or early ovarian failure (20%). ... Fitzgerald P.A. Fitzgerald, Paul A. "Turner Syndrome (Gonadal Dysgenesis)." Current Medical Diagnosis & Treatment 2023 ... Fitzgerald P.A. Fitzgerald, Paul A.Turner Syndrome (Gonadal Dysgenesis). In: Papadakis MA, McPhee SJ, Rabow MW, McQuaid KR. ... Fitzgerald P.A. Fitzgerald, Paul A. (2023). Turner syndrome (gonadal dysgenesis). Papadakis MA, McPhee SJ, Rabow MW, McQuaid KR ...
Partial gonadal dysgenesis. Partial gonadal dysgenesis can be classified as either 46,XY DSD or sex chromosome DSD if there is ... Neither Turner syndrome nor the 46,XX type of pure gonadal dysgenesis appears to be associated with increased risk of gonadal ... Pure gonadal dysgenesis. This class of DSD, with bilateral streak gonads appearing as ovarian stroma without oocytes, usually ... Mixed gonadal dysgenesis-dysgenetic male pseudohermaphroditism. Josso N, ed. The Intersex Child. Basel: Karger; 1981. 105-11. ...
CLICK & SEE. "Its been known for some time that a defective ACE2 gene is associated with high blood pressure, but our research has also clearly linked one variant of this gene to a greater likelihood of mortality after heart attack," said lead researcher Barry Palmer of Otago University, Christchurch.. "This is particularly in middle aged males who have acute coronary syndromes, or reduced flow of blood to the heart," he added.. Otago scientists carried out the study over three years on a large cohort of 1,075 people (males and females) recruited from hospitals. They found, after adjusting for variables such as age, that male patients are almost twice as likely to die if they had one particular (defective) variant of the ACE2 gene.. "This is the first time ever that this variant of the ACE2 gene has been identified in terms of survivability," said Palmer. "It will be useful in terms of other research were doing on tailoring heart disease treatment more accurately to the patient.". "If we can ...
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Tıp terimlerinden gonadal dysgenesis nedir? ne demektir? hakkında bilgi , tıbbi terimler sözlüğü, Gonadal disgenez. Bk. Turner ...
Mixed gonadal dysgenesis (MGD). This is an intersex condition, in which there are some male structures (gonad, testis), as well ... This can include tests for adrenal and gonadal steroids.. In some cases, laparoscopy, exploratory laparotomy, or biopsy of the ...
Gonadal dysgenesis, vaginoplasty for. 37851. Goniotomy. 42758. Graciloplasty procedures. 32200-32210. Grafenbergs (or Graf) ...
It is believed that the term streak gonad syndrome instead of Turners syndrome, gonadal dysgenesis, or other terms is a much ... Gonadal Dysgenesis / diagnosis* * Gonadal Dysgenesis / genetics * Gonadal Dysgenesis, 46,XY / diagnosis * Gonadal Dysgenesis, ...
46XY partial gonadal dysgenesis (PGD) is a rare subtype of disorder of sex development (DSD). 46YY PGD is a congenital disease ... Rupture and hemorrhage of a seminoma mixed with yolk sac tumors in 46XY partial gonadal dysgenesis: a case report and ... Tumor do Seio Endodérmico Disgenesia Gonadal Seminoma Neoplasias Testiculares Adulto Feminino Hemorragia Humanos Masculino ... with atypical chromosomal, gonadal, or anatomical sex development. The patient in this case report had male and female ...
Gonadal dysgenesis (Turner syndrome). *Ovarian neoplasm. *Tubal/peritoneal factors *Endometriosis. *Pelvic adhesions ...
Mixed Gonadal Dysgenesis. Mixed gonadal dysgenesis occurs in children who have a chromosomal abnormality that causes them to be ... Pure Gonadal Dysgenesis. Children with pure gonadal dysgensis syndrome have a 46, XY karytope of a normal male but have ... The most common disorders in newborns are congenital adrenal hyperplasia and mixed gonadal dysgenesis.. Humans have 46 ...
We have previously reported on seven 46,XX true hermaphrodites and one 45,X mixed gonadal … ... We have previously reported on seven 46,XX true hermaphrodites and one 45,X mixed gonadal dysgenesis case all presenting with ...
as partial gonadal dysgenesis. Affected individuals may have external genitalia that do not look clearly male-typical or ...
Synonyms: 46,XY gonadal dysgenesis, complete, CBX2-related; 46,XY sex reversal, CBX2-related; disorder of sex development, 46, ... Synonyms: 46,XY gonadal dysgenesis, complete, CBX2-related; 46,XY sex reversal, CBX2-related; disorder of sex development, 46, ...
Having gonadal dysgenesis (the gonad-ovary or testicle-has not formed normally) may increase the risk of gonadoblastoma. ... Gonadal germ cell tumors form in the gonads (testicles and ovaries).. * Testicular germ cell tumors. Testicular germ cell ... Childhood extracranial germ cell tumors are grouped as gonadal or extragonadal extracranial tumors. ...
Gonadal Dysgenesis. *Androgen Insensitivity Syndrome. Resources for Patients and Families. *Brochure (PDF) ...
Guidozzi et al., "46,XY pure gonadal dysgenesis (Swyer-James syndrome) - Y or Y not?: a review." Obstet Gynecol Surv. (1994) ...
Incomplete gonadal dysgenesis. Urol Int 56(1):57-60, 1996. PMID: 8903559. ... A female with isodicentric X chromosome idic (Xq) associated with ovarian dysgenesis. Indian J Pediatr 61(2):189-92, 1994. PMID ...
... women with gonadal dysgenesis; spontaneous abortuses, and couples with repeated spontaneous miscarriages.. Additionally, the ...
Twenty-four hour, Non-invasive, Neonatal Chromosome Analysis-Application in a Case of Mixed Gonadal Dysgenesis. R Quaife, S H ...
Mixed gonadal dysgenesis no estimate. Complete gonadal dysgenesis one in 150,000 births. Hypospadias (urethral opening in ...
Gonadal dysgenesis, for related abnormalities. cs:Turnerův syndrom de:Turner-Syndrom ko:터너 증후군 it:Sindrome di Turner he:תסמונת ...
Turner syndrome is also sometimes called gonadal dysgenesis. It occurs in around one in 2,500 live female births. There is no ... Gonadal failure is treated with estrogens and progesterone. Starting estrogen too early or using doses that are too high can ...
The most common karyotype in mixed gonadal dysgenesis is 45,XO/46,XY, but other mosaics have been reported with structurally ... It should be remembered that the distinction between mixed gonadal dysgenesis and Turner syndrome with Y material is unclear. ... In any case, mixed gonadal dysgenesis is associated with varying degrees of inadequate masculinization, and such males would be ... For the 46,XY/XO newborn, the diagnosis is mixed gonadal dysgenesis. ...
Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study. J Appl Genet. 2010;51(2):223 ... Furthermore, staining of these gonadal sections with antibodies against SOX-9, the critical protein for male gonadal sexual ... and sequencing of STAR and SF1 as candidates for nonclassic steroidogenic failure or gonadal dysgenesis. SRY was present, and ... Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose- ...
OMIM:480000: Gonadal dysgenesis, XY type. *Metabolism (metabolic pathways involving proteins which contain this domain) ...

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