Gonadal Dysgenesis: 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.Gonadal Dysgenesis, 46,XY: 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.Gonadal Dysgenesis, Mixed: 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.Gonadoblastoma: 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.Turner Syndrome: 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.Sex-Determining Region Y Protein: 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.Gonadal Dysgenesis, 46,XX: 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.Dermatoglyphics: The study of the patterns of ridges of the skin of the fingers, palms, toes, and soles.Disorders of Sex Development: 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.Thyroid Dysgenesis: 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.Sex Chromosome Aberrations: 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.46, XY Disorders of Sex Development: Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical.Karyotyping: Mapping of the KARYOTYPE of a cell.Mosaicism: 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.Sex Determination Analysis: Validation of the SEX of an individual by inspection of the GONADS and/or by genetic tests.Frasier Syndrome: 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.Dysgerminoma: 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)Sexual Development: 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, Gonadal Tissue: 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.X Chromosome: 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.Clitoris: An erectile structure homologous with the penis, situated beneath the anterior labial commissure, partially hidden between the anterior ends of the labia minora.Genes, sry: 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.Y Chromosome: 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.Gonads: The gamete-producing glands, OVARY or TESTIS.Genitalia: The external and internal organs related to reproduction.Sex Determination Processes: The mechanisms by which the SEX of an individual's GONADS are fixed.Steroidogenic Factor 1: 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.Sex Chromosomes: 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)DAX-1 Orphan Nuclear Receptor: 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.Chromosome Banding: 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.Amenorrhea: Absence of menstruation.Testis: 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.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Anterior Eye Segment: The front third of the eyeball that includes the structures between the front surface of the cornea and the front of the VITREOUS BODY.SOX9 Transcription Factor: 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.Agenesis of Corpus Callosum: 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.Mutation: 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.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Pedigree: 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.Dibutyl Phthalate: 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.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.Congenital Hypothyroidism: 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.Testicular Diseases: Pathological processes of the TESTIS.DNA-Binding Proteins: 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.Oophoritis: Inflammation of the OVARY, generally caused by an ascending infection of organisms from the endocervix.

*  Ear canal inflammation and Facial pain and Skin symptoms - Symptom Checker - check medical symptoms at RightDiagnosis

XX Gonadal dysgenesis epibulbar dermoid. 8. 4p16.3 deletion. 9. Aantibodies anti-FVIIIc syndrome. 10. Aarskog Syndrome. More ...

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XX Gonadal dysgenesis epibulbar dermoid. 8. 4p16.3 deletion. 9. Aantibodies anti-FVIIIc syndrome. 10. Aarskog Syndrome. More ...

*  XX gonadal dysgenesis - Wikipedia

In contrast XX gonadal dysgenesis has a normal female chromosome situation. Another type of XX gonadal dysgenesis is known as ... In both sexes sensorineural deafness occurs but in females ovarian dysgenesis also occurs. XX gonadal dysgenesis is a type of ... The term "pure gonadal dysgenesis" (PGD) has been used to distinguish a group of patients from gonadal dysgenesis related to ... Thus XX gonadal dysgenesis is also referred to as PGD, 46 XX, and XY gonadal dysgenesis as PGD, 46,XY or Swyer syndrome. ...

*  Ovotesticular Disorder of Sexual Development Treatment & Management: Medical Care, Surgical Care, Consultations

Dysgerminoma and gonadal dysgenesis in a 46,XX female with no evidence of Y chromosomal DNA. Gynecol Oncol. 1995 Jun. 57(3):423 ... XX Maleness and XX true hermaphroditism in SRY-negative monozygotic twins: additional evidence for a common origin. J Clin ... The role of the sex determining region of the X chromosome (SRY) in the etiology of 46XX true hermaphroditism. Hum Genet. 1992 ... The role of sexual related Y gene detection in the diagnosis of patients with gonadal dysgenesis. Chin Med J (Engl). 2001 Feb. ...

*  Headache in children and Skin symptoms - Symptom Checker - check medical symptoms at RightDiagnosis

XX Gonadal dysgenesis epibulbar dermoid. 8. 4p16.3 deletion. 9. Aantibodies anti-FVIIIc syndrome. 10. Aarskog Syndrome. More ... Headache in children and Skin symptoms and Abdominal symptoms (20 causes). *Headache in children and Skin symptoms and ...

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XX Gonadal dysgenesis epibulbar dermoid. A rare disorder characterized by gonad abnormalities and an eye disorder called ...

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XX Gonadal dysgenesis epibulbar dermoid. 8. 4p16.3 deletion. 9. Aagenaes syndrome. 10. Aantibodies anti-FVIIIc syndrome. More ...

*  Follicle-stimulating hormone receptor - Wikipedia

Women with 46 XX gonadal dysgenesis experience primary amenorrhea with hypergonadotropic hypogonadism. There are forms of 46 xx ... gonadal dysgenesis wherein abnormalities in the FSH-receptor have been reported and are thought to be the cause of the ...

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XX gonadal dysgenesis.. Orphanet; 64739; Ovarian hyperstimulation syndrome.. Orphanet; 619; Primary ovarian failure.. PharmGKB ... DISEASE: Ovarian dysgenesis 1 (ODG1) [MIM:233300]: An autosomal. recessive disease characterized by primary amenorrhea, ... 20]. VARIANT ODG1 VAL-189.. PubMed=9851774; DOI=10.1210/jcem.83.12.5306;. Jiang M., Aittomaeki K., Nilsson C., Pakarinen P., ... DOMAIN 18 46 LRRNT.. REPEAT 49 72 LRR 1.. REPEAT 73 97 LRR 2.. REPEAT 98 118 LRR 3.. REPEAT 119 143 LRR 4.. REPEAT 144 169 LRR ...

*  Aetiological bases of 46,XY disorders of sex development in the Hong Kong Chinese population | HKMJ

XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred. Horm Res Paediatr 2012;78:119-26. ... Gonadal malignancy was rare in our series, probably because gonadectomy was performed early in life when the decision of female ... Objective: Disorders of sex development are due to congenital defects in chromosomal, gonadal, or anatomical sex development. ... 9. Bangsbøll S, Qvist I, Lebech PE, Lewinsky M. Testicular feminization syndrome and associated gonadal tumors in Denmark. Acta ...

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Gonadal dysgenesis Turner type, Gonadal dysgenesis XY type associated anomalies, Gonadal dysgenesis XX type, Goniodysgenesis ... Corpus callosum dysgenesis cleft spasm, Corpus callosum dysgenesis hypopituitarism, Corpus callosum dysgenesis X-linked ... Renal tubular dysgenesis, Renal tubulopathy diabetes mellitus and cerebellar ataxia due to duplication of mitochondrial DNA, ... Twenty-nail dystrophy, Twin twin transfusion syndrome, Tylosis, Type 1 plasminogen deficiency, Typhoid fever, Typhus, Tyrosine- ...

*  XY gonadal dysgenesis - Wikipedia

... and XX gonadal dysgenesis as PGD, 46,XX. Patients with PGD have a normal karyotype but may have defects of a specific gene on a ... Types include: There are several forms of gonadal dysgenesis. The term "pure gonadal dysgenesis" (PGD) has been used to ... Gonadal dysgenesis Stoicanescu D, Belengeanu V, et al. (2006). "Complete Gonadal Dysgenesis With XY Chromosomal Constitution". ... and hence is part of a class of conditions termed gonadal dysgenesis. There are many forms of gonadal dysgenesis. Swyer ...

*  Chromosome 23 deletion - Tips and Tricks From Doctors

Sex chromosomes: XX female. XY male. Great wikipedia question. Get a more detailed answer › ... 46: May have pieces that are switched aroung causing different phenotypes, either good or bad. ...Read more ... Their verbal and performance iqs are 15 to 20 points lower than those of their siblings. These women do not appear to be at ... Hermaphroditism can also occur in 46 xx individuals with a fragment of a y chromosome. ...Read more ...

*  Gonadal dysgenesis - Wikipedia

XX gonadal dysgenesis, also pure gonadal dysgenesis, 46,XX Swyer syndrome, also pure gonadal dysgenesis, 46,XY Perrault ... XX gonadal dysgenesis + sensorineural hearing loss Mixed gonadal dysgenesis Exposure to environmental endocrine disruptors ... Gonadal dysgenesis is any congenital developmental disorder of the reproductive system characterized by a progressive loss of ... As a result, if a gonad cannot express its sexual identity via its hormones-as in gonadal dysgenesis-then the affected person, ...

*  List of MeSH codes (C13) - Wikipedia

... xx MeSH C13.371.820.700.842.309.388 --- gonadal dysgenesis, 46,xy MeSH C13.371.820.700.842.309.391 --- gonadal dysgenesis, ... gonadal dysgenesis MeSH C13.371.820.700.842.309.193 --- gonadal dysgenesis, 46, ...

*  List of MeSH codes (C19) - Wikipedia

... xx MeSH C19.391.775.309.388 --- gonadal dysgenesis, 46,xy MeSH C19.391.775.309.391 --- gonadal dysgenesis, mixed MeSH C19.391. ... gonadal dysgenesis MeSH C19.391.775.309.193 --- gonadal dysgenesis, 46, ...

*  List of MeSH codes (C12) - Wikipedia

... xx MeSH C12.740.700.842.309.293 --- gonadal dysgenesis, 46,xy MeSH C12.740.700.842.309.391 --- gonadal dysgenesis, mixed MeSH ... gonadal dysgenesis MeSH C12.740.700.842.309.195 --- gonadal dysgenesis, 46, ...

*  List of diseases (0-9) - Wikipedia

46 xx gonadal dysgenesis epibulbar dermoid, rare (NIH) 47, XXY syndrome 47, XYY syndrome 47, XXX syndrome 48, XXXX syndrome 48 ...

*  Androgen insensitivity syndrome - Wikipedia

XX gonadal dysgenesis (46,XX karyotype) Leydig cell agenesis or hypoplasia, not otherwise specified (46,XY karyotype) Absent ( ... Kim KR, Kwon Y, Joung JY, Kim KS, Ayala AG, Ro JY (October 2002). "True hermaphroditism and mixed gonadal dysgenesis in young ... Mixed gonadal dysgenesis (45,XO/46,XY karyotype) Tetragametic chimerism (46,XX/46,XY karyotype) Androgen biosynthetic ... Women (chromosomal XX) who are heterozygous for the AR gene have normal primary and secondary sexual characteristics; this ...

*  List of OMIM disorder codes - Wikipedia

DNAJC19 46XX true hermaphroditism; 400045; SRY 46XY complete gonadal dysgenesis; 233420; DHH 46XY complete gonadal dysgenesis; ... SRY 46XY gonadal dysgenesis, complete or partial, with or without adrenal failure; 612965; NR5A1 46XY gonadal dysgenesis, ... ACE Renal tubular dysgenesis; 267430; AGT Renal tubular dysgenesis; 267430; AGTR1 Renal tubular dysgenesis; 267430; REN Renal- ... CBX2 46XY partial gonadal dysgenesis, with minifascicular neuropathy; 607080; DHH 5-fluorouracil toxicity; 274270; DPYD 6- ...

*  Klinefelter Syndrome

XX gonadal dysgenesis can lead to a male phenotype in the presence of a female karyotype resulting from the translocation of ... IQ score typically decreases by 10-20 points for each extra X chromosome present in an individual. ...

*  XX male syndrome - Wikipedia

XY gonadal dysgenesis (Swyer syndrome) de la Chapelle, A (January 1972). "Analytic review: nature and origin of males with XX ... Since XX male syndrome is variable in its presentation, the specifics of treatment varies widely as well. In some cases gonadal ... Most XX males have small testes, are sterile, and have an increase in maldescended testicles compared to XY males. Some XX male ... The presence of the translocated SRY gene leads to an XX embryo developing male characteristics. In rare cases, an XX male does ...

*  List of MeSH codes (C16) - Wikipedia

... xx MeSH C16.131.939.842.309.388 --- gonadal dysgenesis, 46,xy MeSH C16.131.939.842.309.391 --- gonadal dysgenesis, mixed MeSH ... gonadal dysgenesis MeSH C16.131.939.842.309.193 --- gonadal dysgenesis, 46, ... gonadal dysgenesis, 46,xy MeSH C16.131.260.800.345 --- gonadal dysgenesis, mixed MeSH C16.131.260.800.490 --- klinefelter ... gonadal dysgenesis, 46,xy MeSH C16.320.180.800.345 --- gonadal dysgenesis, mixed MeSH C16.320.180.800.490 --- klinefelter ...

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XY Gonadal Dysgenesis, Complete, SRY-Related. More causes » , Show All 1783 Causes , Show causes with descriptions. , Start ... XX chromosome 7 deletion p13-p21. 8. 46,XX testicular DSD. 9. 46,XX testicular disorder of sex development. 10. 46, ...

*  Gerd-like chest pain and Severe heartburn after eating and Sexual symptoms - Symptom Checker - check medical symptoms at...

XY Gonadal Dysgenesis, Complete, SRY-Related. More causes » , Show All 1804 Causes , Show causes with descriptions. , Start ... XX chromosome 7 deletion p13-p21. 8. 46,XX testicular DSD. 9. 46,XX testicular disorder of sex development. 10. 46, ...

William Lakin Turner: William Lakin Turner (25 February 1867 – 21 October 1936) was an English landscape artist.List of diseases (M): This is a list of diseases starting with the letter "M".Thyroid dysgenesis: Thyroid agenesis (or thyroid dysgenesis) is a cause of congenital hypothyroidism where the thyroid is missing, ectopic, or severely underdeveloped.Confined placental mosaicism: Confined placental mosaicism (CPM) represents a discrepancy between the chromosomal makeup of the cells in the placenta and the cells in the baby. CPM was first described by Kalousek and Dill in 1983.Frasier syndrome: Frasier syndrome is a urogenital anomaly associated with the WT1 (Wilms tumor 1 gene) gene.DysgerminomaVigo Ordnance Plant: The Vigo Ordnance Plant, also known as the Vigo Chemical Plant or simply Vigo Plant, was a U.S.Smith–Fineman–Myers syndrome: Smith–Fineman–Myers syndrome (SFMS1), also called X-linked mental retardation-hypotonic facies syndrome 1 (MRXHF1), Carpenter–Waziri syndrome, Chudley–Lowry syndrome, SFMS, Holmes–Gang syndrome and Juberg–Marsidi syndrome (JMS), is a rare X-linked recessive congenital disorder that causes birth defects. This syndrome was named after 3 men, Richard D.Dorsal nerve of clitoris: The dorsal nerve of the clitoris is a nerve in females that branches off the pudendal nerve to innervate the clitoris.PCDHY: PCDH11Y is a gene unique to human males which competes with FOXP2 for the title of the "language gene." PCDH11Y is the gene for making Protocadherin 11Y, a protein that guides the development of nerve cells.Suresh Jayakar: Suresh Dinakar Jayakar (21 September 1937, Bombay-21 January 1988) was an Indian biologist who pioneered in the use of quantitative approaches in genetics and biology.Gonadotropin-resistant ovary syndrome: Resistant ovary syndrome, previously known as Savage Syndrome, is a cause of ovarian failure that can lead to secondary amenorrhea. "Resistant ovaries" result from a functional disturbance of the gonadotrophin receptors in the ovarian follicles.Blood–testis barrier: The blood–testis barrier is a physical barrier between the blood vessels and the seminiferous tubules of the animal testes. The name "blood-testis barrier" is misleading in that it is not a blood-organ barrier in a strict sense, but is formed between Sertoli cells of the seminiferous tubule and as such isolates the further developed stages of germ cells from the blood.Phenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Anterior segment mesenchymal dysgenesis: Anterior segment dysgenesis (ASD) is a failure of the normal development of the tissues of the anterior segment of the eye. It leads to anomalies in the structure of the mature anterior segment, associated with an increased risk of glaucoma and corneal opacity.Agenesis: In medicine, agenesis (Entry "agenesis" in Merriam-Webster Online Dictionary.) refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue.Silent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.Pituitary-specific positive transcription factor 1: POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1), also known as POU1F1, is a transcription factor for growth hormone.Pedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary - About.com, a part of The New York Times Company.TrimethylboraneHybrid inviability: Hybrid inviability is a post-zygotic barrier, which reduces a hybrid's capacity to mature into a healthy, fit adult.Hybrid inviability.Congenital hypothyroidismOrchialgia: Orchialgia is long-term pain of the testes. It is considered chronic if it has persisted for more than 3 months.DNA-binding protein

(1/18) Cytogenetic and molecular study of a premature male infant with 46,XX derived from ICSI: case report.

We investigated the aetiology of the male phenotype in a premature infant derived from ICSI with a 46,XX karyotype. A karyotypically normal couple underwent ICSI because of obstructive azoospermia in the male partner. Sperm were retrieved by testicular sperm extraction (TESE), cryopreserved, and later used for ICSI. The pregnancy after ICSI ended at 20 weeks. A normal-appearing male was delivered but he did not survive. Umbilical cord blood and placenta were sampled and used for molecular and cytogenetic investigation. The 46,XX karyotype from G-banding in this male infant correlated to a balanced female comparative genomic hybridization (CGH) profile in placental tissue. No PCR amplification of SRY on the p arm of the Y chromosome was observed while fluorescence in-situ hybridization (FISH) with the SRY probe also could not detect the gene in cord blood or placental tissues. CGH and FISH, with X and Y centromeric probes, failed to detect mosaicism in the trophoblast, stroma and amnion. Skewed X-chromosome inactivation (81%) was found in the chorionic villi. The molecular and cytogenetic studies indicated a 46,XX male infant without the SRY gene or 46,XX/XY mosaicism. The possible mechanism in this SRY-negative XX male by ICSI is discussed.  (+info)

(2/18) Chromosomal instability in two siblings with gonad deficiency: case report.

Non-random de novo autosomal chromosomal rearrangements have not been shown to cause exocrine or gonadal dysfunction. We report on two siblings, a brother and a sister, both with de novo chromosomal rearrangements and gonadal deficiency including premature ovarian failure. They had normal phenotypes without additional manifestations of known chromosomal breakage syndromes (except for the gonadal dysfunction) and normal alpha-fetoprotein dosage level. The association of sperm abnormalities in the brother and ovarian dysfunction in the sister suggested an increased spontaneous chromosomal instability. Since the co-occurrence of chromosomal anomalies and reproductive failures may not be coincidental, we performed repeated chromosomal analysis of peripheral blood lymphocytes prior to proposing ICSI for IVF (for the brother). In both sibs, infertility was associated with random and non-random de novo autosomal chromosomal abnormalities. We discuss the possible relationship between these unusual clinical and cytogenetic features and their potential links to ataxia-telangiectasia.  (+info)

(3/18) SRY-negative 46,XX male with normal genitals, complete masculinization and infertility.

XX maleness is a rare syndrome with a frequency of 1 in 20,000-25,000 males. XX males exist in different clinical categories with ambiguous genitalia or partially to fully mature male genitalia, in combination with complete or incomplete masculinization. In this study, we report a case of SRY-negative XX male with complete masculinization but infertility. The patient had fully mature male genitalia with descended but small testes and no signs of undervirilization. PCR analysis for SRY, ZFY, Amelogenin, AZFa, AZFb, AZFc genes, a pair of primers from heterochromatic region and six Y-STRs showed the absence of any Y-chromosome-derived material. Absence of SRY gene was confirmed by three independent PCRs for each of two sets of primers covering an increasing length of the gene. Sequence analysis of the coding regions of SOX9 and DAX1 genes did not reveal any mutation. Real-time PCR assay revealed normal copy number for SOX9 gene. Microsatellite analysis showed no evidence of 17q (SOX9 gene) or 22q duplication. Genotyping with X-STRs ruled out the possibility of any deletion on X chromosome. Development of the male phenotype in the absence of SRY probably resulted from the loss of function mutation in some unknown sex-determining gene, which normally inhibits the male pathway, or from a gain of function mutation in a gene downstream to SRY in male pathway.  (+info)

(4/18) Quality of life in 70 women with disorders of sex development.

OBJECTIVE: The aim of this study was to assess the quality of life and psychosocial well-being in women with disorders of sex development (DSD). DESIGN: An open case-control study. METHODS: Social and psychiatric information was collected via a structured interview from 70 Danish women diagnosed with DSD, 70 controls matched on sex, age, and school education, and six women with isolated genital malformations. Quality of life and mental distress were assessed by 'Quality of Life-Assessment of Growth Hormone Deficiency in Adults' (QoL-AGHDA) and three symptom scales from the 'Hopkins Symptom Checklist' (SCL-90-R; i.e. somatization, depression, and anxiety) respectively. For both measures, higher scores reflected poorer outcomes. RESULTS: Present relationships and having children were less frequent in patients than in controls (P = 0.02 and P < 0.001 respectively). Previous suicidal thoughts (P = 0.002) and a higher frequency of psychological/psychiatric counseling for severe problems (P = 0.06) were more frequently reported in patients than in controls. The mean QoL-AGHDA score was significantly higher in patients than in controls (5.5 vs 2.9; P = 0.002), especially for congenital adrenal hyperplasia (CAH) females (P = 0.01) and virilized 46,XX and 46,XY females (P = 0.04). The total SCL score was higher in patients than in controls (mean 23.2 vs 20.0), reaching significance for anxiety (mean 6.3 vs 4.3, P = 0.03) with highest score in CAH (P = 0.01). CONCLUSION: An impaired quality of life and more affective distress were observed especially in CAH patients and virilized 46,XX and 46,XY females. This may be caused by trauma from distressing diagnostic procedures, the chronic illnesses per se, and psychosocial consequences of the disorders.  (+info)

(5/18) Sexual function in young women with spontaneous 46,XX primary ovarian insufficiency.

OBJECTIVE: To assess sexual function in women with spontaneous 46,XX primary ovarian insufficiency after at least 3 months of a standardized hormone replacement regimen. DESIGN: Cross-sectional cohort, controlled. SETTING: National Institutes of Health Clinical Research Center. PATIENT(S): Women with primary ovarian insufficiency (n = 143) and regularly menstruating controls (n = 70). INTERVENTION(S): Self-administered questionnaires, 100 microg/day E(2) patch, oral medroxyprogesterone acetate 10 mg for 12 days each month for patients. MAIN OUTCOME MEASURE(S): Derogatis Interview for Sexual Function Self-Report (DISF-SR). RESULT(S): Women with primary ovarian insufficiency had significantly lower DISF-SR composite scores compared with control women. Their serum total testosterone levels were significantly correlated with DISF-SR composite score, although this accounted for only 4% of the variance in this measure. Patients with testosterone levels below normal tended to have lower DISF-SR composite scores. Of patients with primary ovarian insufficiency, 9 of 127 (7%) scored below the second percentile on the composite sexual function score, compared with 1 of 49 control women (2%). CONCLUSION(S): As assessed by the DISF-SR, sexual function is in the normal range for most young women with 46,XX spontaneous primary ovarian insufficiency who are receiving physiologic E(2) replacement. However, as a group, these young women score significantly lower on this sexual function scale than control women.  (+info)

(6/18) Three out of four: a case discussion on ambiguous genitalia.

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(7/18) Women with spontaneous 46,XX primary ovarian insufficiency (hypergonadotropic hypogonadism) have lower perceived social support than control women.

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(8/18) Genetic characterization of two 46,XX males without gonadal ambiguities.

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pure gonadal dy

  • The term "pure gonadal dysgenesis" (PGD) has been used to distinguish a group of patients from gonadal dysgenesis related to Turner syndrome. (wikipedia.org)
  • The term "pure gonadal dysgenesis" (PGD) has been used to describe conditions with normal sets of sex chromosomes (e.g., 46,XX or 46,XY), as opposed to those whose gonadal dysgenesis results from missing all or part of the second sex chromosome. (wikipedia.org)

epibulbar dermoid

  • Another type of XX gonadal dysgenesis is known as 46,XX gonadal dysgenesis epibulbar dermoid, which follows the similar symptoms as the regular syndrome, though it also shows signs of epibulbar dermoid (eye disorder). (wikipedia.org)

sensorineural hear

  • Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, Li W, Klevit RE, King MC (2011) Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. (wikipedia.org)

chromosomes

  • The karyotype reveals XX chromosomes and the imaging demonstrates the presence of a uterus but no ovaries (the streak gonads are not usually seen by most imaging). (wikipedia.org)
  • In Turner syndrome there is a demonstrable abnormality in or absence of one of the sex chromosomes that is the cause of the development of gonadal dysgenesis. (wikipedia.org)
  • As a result, if a gonad cannot express its sexual identity via its hormones-as in gonadal dysgenesis-then the affected person, no matter whether their chromosomes are XY or XX, will develop external female genitalia. (wikipedia.org)
  • XX males that are SRY-positive have two X chromosomes, with one of them containing genetic material from the Y chromosome, making them phenotypically male but genetically female. (wikipedia.org)
  • The most common DSD is congenital adrenal hyperplasia (CAH), which results in a person with female (XX) chromosomes having genitals that look somewhat masculine. (wikipedia.org)
  • There are 47 chromosomes, instead of the usual 46, giving a 47,XYY karyotype. (wikipedia.org)

types of gonadal

  • There are no documented cases in which both types of gonadal tissue function. (wikipedia.org)

Swyer

  • Thus XX gonadal dysgenesis is also referred to as PGD, 46 XX, and XY gonadal dysgenesis as PGD, 46,XY or Swyer syndrome. (wikipedia.org)
  • however in Swyer syndrome the karyotype is 46,XY, and thus gonadectomy is recommended. (wikipedia.org)
  • Swyer syndrome, or XY gonadal dysgenesis, is a type of hypogonadism in a person whose karyotype is 46,XY. (wikipedia.org)
  • Swyer syndrome represents one phenotypic result of a failure of the gonads to develop properly, and hence is part of a class of conditions termed gonadal dysgenesis. (wikipedia.org)

syndrome

  • In 1951, Perrault reported the association of gonadal dysgenesis and deafness, now called Perrault syndrome. (wikipedia.org)
  • The first type of gonadal dysgenesis discovered was Turner syndrome. (wikipedia.org)
  • XX male syndrome is a rare congenital condition where an individual with a female genotype has phenotypically male characteristics that can vary between cases. (wikipedia.org)
  • This syndrome is diagnosed through various detection methods and occurs in approximately 1:20 000 newborn males, making it less common than Klinefelter syndrome. (wikipedia.org)
  • The degree to which individuals with XX male syndrome develop the male phenotype is variable, even among SRY-positive individuals. (wikipedia.org)
  • Mutations in SF1 and WNT4 genes are also being studied in connection with SRY-negative XX male syndrome. (wikipedia.org)
  • In a 46,XY individual with ambiguous or underdeveloped genitalia (hypogonadotrophic hypogonadism) and an absence of the sense of smell, a diagnosis of Kallman syndrome may tested by including the ANOS , CHD7, FGFR1, and HESX1 genes for no additional charge. (invitae.com)
  • In a 46,XY individual with ambiguous genitalia and a syndromic phenotype that is consistent with Smith-Lemli-Opitz syndrome and corroborated by an abnormal biochemical profile showing elevated serum concentration of 7-dehydrocholesterol (7- DHC ) reductase, a suspected diagnosis of Smith-Lemli-Opitz syndrome may be evaluated by testing the DHCR7 gene. (invitae.com)
  • It is estimated that only 15-20% of children with 47,XYY syndrome are diagnosed within their lifetime. (wikipedia.org)

hypogonadism

  • XX gonadal dysgenesis is a type of female hypogonadism in which no functional ovaries are present to induce puberty in an otherwise normal girl whose karyotype is found to be 46,XX. (wikipedia.org)

chromosomal

  • In the latter a distinct chromosomal aberration is present, while in PGD the chromosomal constellation is either 46,XX or 46,XY. (wikipedia.org)
  • Less common are SRY-negative XX males which can be caused by a mutation in an autosomal or X chromosomal gene. (wikipedia.org)
  • Encountered karyotypes include 47XXY, 46XX/46XY, or 46XX/47XXY or XX & XY with SRY Mutations, Mixed Chromosomal abnormalities or hormone deficiency/excess disorders, and various degrees of mosaicism of these and a variety of others. (wikipedia.org)
  • The 3 Primary Karyotypes for True Hermaphroditism are XX with genetic defects (55-70% of cases), XX/XY (20-30% of cases) & XY (5-15% of cases) with the remainder being a variety of other Chromosomal abnormalities and Mosaicisms. (wikipedia.org)
  • More specifically, these terms refer to "congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. (wikipedia.org)

chromosome

  • In contrast XX gonadal dysgenesis has a normal female chromosome situation. (wikipedia.org)
  • Normal XX females undergo X inactivation during which one copy of the X chromosome is silenced. (wikipedia.org)
  • The X chromosome with the SRY gene is preferentially chosen to be the active X chromosome 90% of the time, which is why a complete male phenotype is often seen in SRY-positive XX males. (wikipedia.org)
  • The Invitae Disorders of Male Sex Development Panel analyzes up to 15 genes associated with sexual development that is inconsistent with a 46,XY chromosome complement. (invitae.com)
  • When the baby is conceived, a chromosome from the sperm cell, either X or Y, fuses with the X chromosome in the egg cell, determining whether the baby will be female (XX) or male (XY). (wikipedia.org)
  • In Boston, USA 55% of 47,XYY boys (6 of 11) identified in a newborn screening program had learning difficulties and received part-time resource room help compared to 11% (1 of 9) in an above-average-IQ control group of 46,XY boys with familial balanced autosomal chromosome translocations. (wikipedia.org)

hormones

  • It is defined as the development of phenotypic structures consequent to the action of hormones produced following gonadal determination. (wikipedia.org)

karyotype

  • A standard karyotype can be completed to cytogenetically determine that an individual with a partial or complete male phenotype has a XX genotype. (wikipedia.org)

gonads

  • The consequences to the girl with XX gonadal dysgenesis: Her gonads cannot make estrogen, so her breasts will not develop and her uterus will not grow and menstruate until she is given estrogen. (wikipedia.org)
  • Gonadal dysgenesis is any congenital developmental disorder of the reproductive system characterized by a progressive loss of germ cells on the developing gonads of an embryo. (wikipedia.org)

genitalia

  • AIS is the largest single entity that leads to 46,XY undermasculinized genitalia. (wikipedia.org)
  • The appearance of XX males can fall into one of three categories: 1) males that have normal internal and external genitalia, 2) males with external ambiguities, and 3) males that have both internal and external genital ambiguities (true hermaphrodites). (wikipedia.org)
  • In a 46,XY individual with ambiguous genitalia, intellectual disability, characteristic dysmorphic facies, and alpha thalassemia, testing for ATRX may be indicated and can be included at no additional charge. (invitae.com)
  • In a 46,XY individual with ambiguous genitalia and congenital bowing of long bones, a suspected diagnosis of campomelic dysplasia can be evaluated by testing the SOX9 gene. (invitae.com)

disorder of sexual d

  • Ovotesticular disorder of sexual development can only be confirmed with gonadal biopsy results. (medscape.com)

embryo

  • The presence of the translocated SRY gene leads to an XX embryo developing male characteristics. (wikipedia.org)

ovarian

  • In both sexes sensorineural deafness occurs but in females ovarian dysgenesis also occurs. (wikipedia.org)

androgen

  • With the exception of 46,XX individuals with CAH or documented maternal androgen excess, most patients with genital ambiguity require surgical exploration for diagnostic confirmation and removal of contradictory gonadal tissue. (medscape.com)

mixture

  • 12 A cell type benign neoplasm that is composed_of a mixture of gonadal elements. (malacards.org)
  • 72 A gonadoblastoma is a complex neoplasm composed of a mixture of gonadal elements, such as large. (malacards.org)

tissue

  • It allows preservation of gonadal tissue concordant with sex of rearing, and removal of all discordant tissue. (medscape.com)

undergo

  • Apparently either the germ cells do not form or interact with the gonadal ridge or undergo accelerated atresia so that at the end of childhood only a streak gonad is present, unable to induce pubertal changes. (wikipedia.org)

Mutations

  • Masculinization of SRY-negative XX males is dependent upon which genes have mutations and at what point in development these mutations occur. (wikipedia.org)

testes

  • Most XX males have small testes, are sterile, and have an increase in maldescended testicles compared to XY males. (wikipedia.org)
  • DAX1 represses masculinizing genes, therefore, if there is a loss of function of DAX1 then testes can develop in an XX individual. (wikipedia.org)

development

  • For this reason, in gonadal dysgenesis the accompanying hormonal failure also prevents the development of secondary sex characteristics in either sex, resulting in a sexually infantile female appearance and infertility. (wikipedia.org)

conditions

  • Although similar in some ways to mixed gonadal dysgenesis, the conditions can be distinguished histologically. (wikipedia.org)

gene

  • When the X with the SRY gene combines with a normal X from the mother during fertilization, the result is an XX male. (wikipedia.org)
  • In most XX males the SRY gene is present. (wikipedia.org)
  • In rare cases, an XX male does not have the SRY gene. (wikipedia.org)

female

  • To be female, one needs to be (XX), whereas to be a male, (XY) is needed. (wikipedia.org)

include

  • Types include: There are several forms of gonadal dysgenesis. (wikipedia.org)

individuals

  • Some XX male individuals have decreased amounts of body hair and decreased libido. (wikipedia.org)

male

  • On average, the appearance of XX males differs from that of an XY male in that they are smaller in height and weight. (wikipedia.org)

characteristics

  • According to research at the University of Oklahoma health science centers, despite XX males exhibiting feminine characteristics, their behaviours are usually representative of masculinity in their culture. (wikipedia.org)
  • Developmental delays and behavioral problems are also possible, but these characteristics vary widely among affected boys and men, are not unique to 47,XYY and are managed no differently from in 46,XY males. (wikipedia.org)

cases

  • Familial cases of XX gonadal dysgenesis are on record. (wikipedia.org)

produce

case

  • An unusal case of hermaphroditism--a 46,XX/69,XXY chimera. (biomedsearch.com)
  • Although fertility is possible in true hermaphrodites, there has yet to be a documented case where both gonadal tissues function, contrary to the misconception that hermaphrodites can impregnate themselves. (wikipedia.org)

usually

  • At this point it is usually possible for a physician to make a diagnosis of XX gonadal dysgenesis. (wikipedia.org)

seen

  • It is thought that X inactivation in XX males may account for the genital ambiguities and incomplete masculinization seen in SRY-positive XX males. (wikipedia.org)

average

  • In a summary of six prospective studies of 47,XYY boys identified by newborn screening programmes, twenty-eight 47,XYY boys had an average 100.76 verbal IQ, 108.79 performance IQ, and 105.00 full-scale IQ. (wikipedia.org)
  • In Edinburgh, 54% of 47,XYY boys (7 of 13) identified in a newborn screening program received remedial reading teaching compared to 18% (4 of 22) in an above-average-IQ control group of 46,XY boys matched by their father's social class. (wikipedia.org)