46, XY Disorders of Sex Development

Sexual Development

Gonadal Dysgenesis, 46,XY

Disorders of Sex Development

Steroidogenic Factor 1

46, XX Disorders of Sex Development

Hypospadias

Sex Reassignment Procedures

Gonadal Dysgenesis, 46,XX

Virilism

46, XX Testicular Disorders of Sex Development

Gonadoblastoma

Ovotesticular Disorders of Sex Development

Androgen-Insensitivity Syndrome

Antley-Bixler Syndrome Phenotype

Sex Determination Analysis

Sex-Determining Region Y Protein

Psychosexual Development

Genitalia

Sex Chromosome Disorders of Sex Development

Adrenal Hyperplasia, Congenital

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Foekje Dillema

True hermaphroditism

5α-Reductase 2 deficiency

17β-Hydroxysteroid dehydrogenase III deficiency

MAP3K1

Gonadal dysgenesis

Transforming protein RhoA

Mild androgen insensitivity syndrome

Androgen insensitivity syndrome

Hermaphrodite

Genetics of infertility

XX male syndrome

Leydig cell hypoplasia

Margaret Wambui

Isolated 17,20-lyase deficiency

DAX1

XY gonadal dysgenesis

Disorders of sex development

Sex chromosome

Campomelic dysplasia

Sex-determining region Y protein

XX gonadal dysgenesis

Heino Meyer-Bahlburg

XXYY syndrome

Prenatal hormones and sexual orientation

X chromosome

WNT4

Sexual anomalies

Caster Semenya

M33 (gene)

Color blindness

Mutation

Deletion (genetics)

Cinsiyet kimliği - Vikipedi

Sex differences in human physiology

Cholestasis

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Nondisjunction

Sex-determination system

Cannabis

Smoking

Gender identity

Karyotype

Small supernumerary marker chromosome

Estrogen (medication)

XYYY syndrome

Intersex medical interventions

Transphobia

Causes of gender incongruence

Transgender legal history in the United States

Insomnia

Karyotype15

• A 3-month old baby born with atypical genitalia has an XY karyotype. (urologytimes.com)
• Patients with XO karyotype (Turner's syndrome) would have bilateral streak gonads (such as on the left, Exhibit 3) without the external genitalia virilization and the XY karyotype. (urologytimes.com)
• The majority of patients with ovotestes syndrome have an XY karyotype but can also have an XX karyotype. (urologytimes.com)
• Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical. (bvsalud.org)
• A rare genetic disorder of sex development with either the coexistence of both male and female reproductive gonads or, more frequently, the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. (cdc.gov)
• 1] Out of this, persistent Mullerian duct syndrome (PMDS) is still rarer form of male pseudohermaphroditism in which Mullerian derivatives (cervix, vagina, and fallopian tube) are present in an otherwise phenotypically male with normal XY karyotype. (amhsjournal.org)
• Chromosomal analysis revealed a 46 XY karyotype. (amhsjournal.org)
• The affected subjects have a 46,XY karyotype, bilateral testes, and normal testosterone production but have impaired virilization during embryogenesis due to defective conversion of testosterone to dihydrotestosterone (DHT), which is a significantly more potent androgen. (lecturio.com)
• In 2019, it was revealed that Wambui was born with the 46,XY karyotype and an intersex condition after her qualification for IAAF women's competition was affected by the association's new regulations for athletes with XY disorders of sex development, testosterone levels above 5 nmol/L, and androgen sensitivity. (celebheightwiki.com)
• A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. (fpnotebook.com)
• Initial evaluation of DSD should include a thorough history, physical exam that includes assessment of genital anatomy, evaluation of sex chromosomes using karyotype and fluorescence in situ hybridization, and assessment of internal organs by abdominopelvic ultrasonography. (healthplexus.net)
• [1] [2] Androgen insensitivity refers to the inability of the body of an individual with a 46, XY karyotype (usually leading to normal male development) to properly respond to male sex hormones (androgens). (rarerheumatologynews.com)
• The conundrums deal with gender assignment of neonates with ambiguous genitalia of whatever cause but most particularly those with a 46,XY karyotype. (indexarticles.com)
• In the 2 articles by Migeon et al, (1,2) the subjects studied are adults with a 46,XY or 46,XY/XO karyotype, almost all of whom were initially seen by 24 months of age with undermasculinized genitalia. (indexarticles.com)
• G-banded karyotype showing trisomy 21 (47,XY,+21). (medscape.com)

Chromosome12

• 22 not have the normal sex chromosome structure for a male or female. (familywatch.org)
• The condition is a rare genetic disorder caused by deletion mutations on chromosome 5. (lecturio.com)
• 5-alpha-reductase deficiency is an autosomal recessive intersex or "disorder of sex development" (DSD) condition caused by a loss-of-function mutation in a gene on chromosome 2. (lecturio.com)
• The scientists at MRC Harwell, collaborating with New York University, found that a mutation in MAP3K1 can cause someone with a Y chromosome, predicted to develop as a male, to instead develop as a female or as a male with characteristics on the spectrum between the two sexes. (mrc.ac.uk)
• Scientists studied two families from France and New Zealand affected by a heritable form of sex development disorder, including several women who had the chromosome set that predicted they would be male (XY) and men who had problems with sex development. (mrc.ac.uk)
• It is a rare recessive genetic disorder linked to the X chromosome that results in different mutations in the androgen receptor. (bvsalud.org)
• The three classifications within DSD are 46, XX DSD (disorders of gonadal or ovarian development and androgen excess), 46, XY DSD (disorders of gonadal or testicular development and impaired androgen synthesis or action), and chromosomal DSD (numeric sex chromosome anomalies). (healthplexus.net)
• X-linked recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder. (rarerheumatologynews.com)
• Affected individuals with a typical male chromosome pattern (46,XY) have female external genitalia and small testes that are undescended, which means they are abnormally located in the pelvis, abdomen, or groin. (medlineplus.gov)
• Note: The term "DSD" also comprises sex chromosome disorders including Turner (45,X) and Klinefelter syndromes (47,XXY). (unboundmedicine.com)
• Androgen insensitivity syndrome (AIS), also linked to the chromosome Xq11 - 123, known as testicular feminization syndrome1, which is the gene encoding the androgen includes a widely varied group of mutations receptor, of a genetically male individual that is related to androgen receptor (46 XY)3,4. (bvsalud.org)
• This occurs under the influence of a cascade of genes, starting with the sex-determining gene on the Y chromosome (SRY). (blogspot.com)

DSDs5

• Differences (disorders) of sex development (DSDs), formerly termed intersex conditions, are seen in infants who are born with ambiguous or abnormal genitalia and may have indeterminate phenotypic sex. (medscape.com)
• The DSD Regulations (PDF below) are designed to regulate athletes with one of seven listed differences in sex development (DSDs) competing in international events run between 400m and one mile in the IAAF female category, if their testosterone levels are above 5 nmol/L and have an 'androgenising effect' (i.e. if that testosterone is taken up by their androgen receptors and boosts their physiology). (sportsintegrityinitiative.com)
• Disorders of sex development (DSDs) are estimated to be prevalent in 0.1-2% of the global population, although these figures are unlikely to adequately represent non-white patients as they are largely based on studies performed in Europe and the USA. (nature.com)
• Possible causes of DSDs include disruptions to gene expression and regulation-processes that are considered essential for the development of testes and ovaries in the embryo. (nature.com)
• Male sex assignment is an appropriate alternative in patients with Prader IV or V DSDs. (nature.com)

Intersex6

• A consensus paper in 2006, which reflected the opinion of a group of international experts in the subject, led to the substitution of the term Intersex for disorders of sexual development ( DSD ). (frontiersin.org)
• Intersex refers to a condition in which the appearance of the external genitalia falls somewhere between the two natural sexes, male and female, required for reproduction. (frontiersin.org)
• Previous terms such as "intersex," "pseudohermaphroditism," or "sex reversal" should be avoided. (unboundmedicine.com)
• Given the significant advances in the understanding of molecular causes of abnormal sexual development, it became necessary to integrate current knowledge with the classification of intersex disorders. (hormones.gr)
• Furthermore, there has been dissatisfaction about existing nomenclature of intersex disorders among both health professionals and patients as to the gender-based diagnostic labels. (hormones.gr)
• The term "intersex," as defined in Stedman's Medical Dictionary and in the Compact Oxford English Dictionary, is "one having characteristics of both sexes. (indexarticles.com)

Chromosomes5

• 18 (3) "Sex," the biological state of being female or male, based on sex organs, 19 chromosomes, and endogenous hormone profiles. (familywatch.org)
• In humans, aneuploidy would be any number of chromosomes other than the usual 46. (genome.gov)
• Autosomal" means that the gene in question is located on one of the numbered, or non-sex, chromosomes. (genome.gov)
• An autosome is one of the numbered chromosomes, as opposed to the sex chromosomes. (genome.gov)
• Humans have 22 pairs of autosomes and one pair of sex chromosomes (XX or XY). (genome.gov)

External genitalia5

• This clinical conduct was based on the theory that the sex of rearing, the appearance of the external genitalia, and the hormonal milieu were the critical factors in determining gender identity ( 6 ). (frontiersin.org)
• Patients affected by Frasier Syndrome present a 46,XY partial gonadal dysgenesis with streak gonads and normal external genitalia (with uterus) associated more frequently with development of gonadoblastoma. (atlasgeneticsoncology.org)
• Affected females present with abnormal development of the external genitalia, virilization, primary amenorrhea, and tall stature. (lecturio.com)
• More severely affected individuals may have female external genitalia with an abnormally large clitoris, partial fusion of the labia and gynecomastia (excessive development of male breasts). (rarerheumatologynews.com)
• DHT is necessary for the development of male external genitalia in utero. (unboundmedicine.com)

Ambiguous genitalia1

• Ambiguous Genitalia (Disorders of Sexual Development) is a topic covered in the 5-Minute Pediatric Consult . (unboundmedicine.com)

Reversal1

• Werner, M. H., Huth, J. R., Gronenborn, A. M. & Clore, G. M. Molecular basis of human 46X, Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex. (nature.com)

Mixed gonadal dy1

• Disorders such as ovotesticular DSD and mixed gonadal dysgenesis are relatively rare and it can be difficult to conclusively evaluate patients with these conditions. (nature.com)

Mutations11

• Scientists link sex development disorders to faulty gene Mutations in a gene called MAP3K1 play a key role in sex development disorders, according to new research by the Medical Research Council (MRC). (mrc.ac.uk)
• The paper, Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination is published today in the American Journal of Human Genetics. (mrc.ac.uk)
• Recently, cases of familial and spontaneous 46,XY disorders of sex development (DSD) have been attributed to mutations in the human gene encoding mitogen-activated protein kinase kinase kinase 1, MAP3K1, a component of the mitogen-activated protein kinase (MAPK) signal transduction pathway. (elsevier.com)
• In individuals harbouring heterozygous mutations in MAP3K1, dysregulation of MAPK signalling was observed in lymphoblastoid cell lines, suggesting a causal role for these mutations in disrupting XY sexual development. (elsevier.com)
• We discuss the significance of these data for the functional interpretation of sex-reversing MAP3K1 mutations in humans. (elsevier.com)
• Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy. (rarerheumatologynews.com)
• Females with the same LHCGR gene mutations that cause Leydig cell hypoplasia in males have normal female genitalia and normal breast and pubic hair development, but they may begin menstruation later than usual (after age 16) and have irregular menstrual periods. (medlineplus.gov)
• Basic embryology of the ovary and molecular pathways determining ovarian development are reviewed, focusing on mutations disrupting normal ovarian development. (hormones.gr)
• Regulatory genes controlling the development of the genital ridge and the formation of the bipotent gonad have been identified and developmental anomalies resulting from gene mutations have been described. (hormones.gr)
• Since 2004, new findings have suggested that specific genes are required for the early development of the ovary and that mutations in these genes influence ovarian development and result in specific clinical syndromes. (hormones.gr)
• In the first part, basic embryology of the ovary, genetic control of ovarian development and relevant mutations are reviewed. (hormones.gr)

Virilization2

• Histologically, the right gonad has both ovarian tissue and testicular tissue (the source of virilization in this XY baby). (urologytimes.com)
• Patients with simple virilizing congenital adrenal hyperplasia (CAH), as well as those with CAH and severe virilization, are less likely to have psychosexual disorders than patients with other types of DSD. (nature.com)

Atypical2

• In 2006, the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Paediatric Endocrinology (ESPE) published proposed changes to the previously used nomenclature and definitions of disorders in which the development of chromosomal, gonadal, or phenotypic sex is atypical. (medscape.com)
• Disorders of sex development (DSD) is an umbrella term for congenital conditions in which anatomic, gonadal, or chromosomal sex is atypical. (healthplexus.net)

Congenital3

• Disorders causing genital ambiguity are congenital and usually present in the newborn period. (unboundmedicine.com)
• Advances in genetic causes have allowed care hospital for amenorrhea with normal these congenital conditions of develop- breast and external genital development. (bvsalud.org)
• 3 The term 'disorders of sex development' (DSD) is now proposed to define congenital conditions in which a dysharmony between chromosomal, gonadal and anatomical sex exists. (hormones.gr)

Differences of Sex Development1

• On 29 September 2017, the IAAF submitted its Eligibility Regulations for the Female Classification (Athletes with Differences of Sex Development) to the CAS, along with evidence in support of the new Regulations and the Hyperandrogenism Regulations. (sportsintegrityinitiative.com)

Hormones7

• The lack of sex hormones results in impaired pubertal development. (lecturio.com)
• Androgens, including testosterone, are the hormones that control male sexual development and reproduction. (medlineplus.gov)
• Arefhosseini S , Ebrahimi-mameghani M, Najafipour F, Tutunchi H. Non-alcoholic fatty liver disease across endocrinopathies: Interaction with sex hormones. (wjgnet.com)
• The types of germ cells and their supporting cellular elements are listed in Table 4.1.1 The testicular tubular architecture, relative amounts, and types of these cells change over time based on the influence of the sex hormones. (basicmedicalkey.com)
• Once the differentiation of the sexual organs into male or female is settled, the next thing that is differentiated is the brain, under the influence, mainly, of sex hormones on the developing brain cells. (blogspot.com)
• later, during puberty, the brain circuits that developed in the womb are activated by sex hormones. (blogspot.com)
• Some foetal rat brain cells undergo sexual differentiation, even in tissue culture, without the involvement of sex hormones (11,12). (blogspot.com)

Differentiation4

• The management of disorders of sexual differentiation (DSD) involves a multidisciplinary approach. (who.int)
• There may also be direct genetic effects that affect the sexual differentiation of the brain without involving the sex hormone receptors. (blogspot.com)
• The genes SRY and ZRY are candidates for this action since they are expressed until very advanced ages in the human brain, even though strictly speaking the role of these genes in sexual differentiation stops during development (13,14). (blogspot.com)
• There is a growing body of knowledge related to the genes that control sex determination and differentiation. (hormones.gr)

Bilateral1

• With the surgical history of bilateral inguinal anatomical sex to be called disorders of hernioplasty at three years of age, in which sexual differentiation5. (bvsalud.org)

Autosomal recessive5

• 5-Alpha-reductase type 2 deficiency (5-ARD) is an autosomal recessive sex-limited condition resulting in the inability to convert testosterone to the more physiologically active dihydrotestosterone (DHT). (medscape.com)
• As with most single enzyme disorders, 5-alpha-reductase type 2 deficiency is an autosomal recessive trait and sex limited because the clinical syndrome only affects genetic males, with very subtle phenotypic findings in homozygous females. (medscape.com)
• By contrast, an autosomal recessive disorder requires two copies of the mutated gene (one from each parent) to cause the disorder. (genome.gov)
• Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders. (genome.gov)
• Sickle cell anemia is an example of an autosomal recessive genetic disorder. (genome.gov)

Testosterone3

• The root cause of this disorder is a deficiency in the 5-alpha-reductase type 2 isoenzyme, which transforms testosterone to DHT. (medscape.com)
• Only the genes coding for 5-alpha-reductase type 1 (SRD5A1) and 5-alpha-reductase type 2 (SRD5A2) are pertinent to the conversion of testosterone to DHT, whereas the gene coding 5-alpha-reductase type 3 is unrelated to any disorders of male sexual development, and may be implicated in a rare disorder of glycosylation. (medscape.com)
• A lack of testosterone interferes with the development of male reproductive organs before birth and the changes that appear at puberty. (medlineplus.gov)

Sexual10

• The term "disorders of sex development" implies that there has been an alteration or deviation (or more politically correctly, a difference) in the normal path of development of the sex organs, which are better referred to as genitals organs involved in sexual activity and reproduction. (frontiersin.org)
• Conditions of sexual ambiguity in which the individual possesses gonadal tissues of both sexes, tissues from the OVARY and the TESTIS. (uams.edu)
• Genital ambiguity among persons with XY sexual chromosom. (biomedcentral.com)
• Sexual quality of life of individuals with 46,XY Disorders of Sex Development. (praxis-sexualtherapie.ch)
• This new discovery adds to the genes already known to influence a range of sexual development disorders. (mrc.ac.uk)
• Dr Andy Greenfield from MRC Harwell, who led the UK arm of the study, explains: "Disorders of sexual development affect approximately one person in every thousand worldwide and can lead to lifelong emotional and health problems. (mrc.ac.uk)
• However, no systematic examination of sexual development in Map3k1-deficient mice has been described, an omission that is especially relevant in the case of C57BL/6J, a genetic background that is sensitized to disruptions to testis determination. (elsevier.com)
• Ikeda, Y. N. The genes in the molecular cascade of the mammalian sexual development. (nature.com)
• Síndrome de insensibilidad a los andrógenos, feminización testicular, disgenesia gonadal 46 xy, efecto androgénico, trastornos de diferenciación sexual. (bvsalud.org)
• Instead, the development of the female sexual organs in the womb is based primarily on the absence of androgens (1). (blogspot.com)

Ovotesticular DSD1

• This is particularly important when the long-term outcome of a given condition is unclear or poor as is the case with many instances of gonadal dysgenesis, male aphallia, ovotesticular DSD, XY cloacal exstrophy ( 5 ), and extreme micropenis among others. (frontiersin.org)

True hermaphroditism1

• These disorders have historically been called true hermaphroditism. (uams.edu)

Chromosomal sex2

• The LWPES-ESPE terminology mainly reflects the chromosomal sex or the gonadal tissue associated with the disorder. (medscape.com)
• Phenotypic sex determination begins with genetic sex and follows a logical cascade: Chromosomal sex determines gonadal sex, which determines phenotypic sex. (medscape.com)

Biological sex2

• The majority of people adhere to the gender binary, which includes expectations of masculinity and femininity in all aspects of sex and gender, including biological sex, gender identity, and gender expression. (wikipedia.org)
• Some persons who are transgender, non-binary, or gender queer do not identify with all or even some of the features of gender that are assigned to their biological sex. (wikipedia.org)

DEFICIENCY4

• Of the 15 patients of 46 XY CAH, there were 5 with 17-α hydroxylase deficiency, 2 with 3-β HSD deficiency and one case of lipoid adrenal hyperplasia. (who.int)
• Von Willebrand disease (vWD) is a common, inherited, genetically and clinically heterogeneous hemorrhagic disorder caused by a deficiency or dysfunction of the protein termed von Willebrand factor (vWF). (medscape.com)
• 46,XY individuals with complete 17 α -hydroxylase/17,20-lyase deficiency may present in adolescence with hypertension and delayed puberty. (unboundmedicine.com)
• CAH, 5 α -reductase deficiency), unresponsiveness to T action (androgen insensitivity syndromes), or defects in testicular development (complete or partial gonadal dysgenesis). (unboundmedicine.com)

Pathophysiology1

• 3, 4] The rationale behind these proposals was to change the nomenclature to reflect advances in the understanding of the pathophysiology of these disorders while being sensitive to the needs and concerns of patients affected by them. (medscape.com)

Determined in the1

• By unravelling the building blocks of how our sex is determined in the womb it can help us to combat disease such as infertility and gonadal tumours, which other research has shown are more common in patients with the faulty MAP3K1 gene. (mrc.ac.uk)

Hypospadias2

• Persistent Mullerian duct with hypospadias is a rare anomaly, not classifiable under any of the 46 XY DSD. (amhsjournal.org)
• Psychosexual development of children and adolescents with hypospadias. (praxis-sexualtherapie.ch)

Ambiguity3

• Despite this confusion, the term today is used primarily, but not exclusively, to denote physical ambiguity-having the genital/gonadal/reproductive structures characteristic of both sexes. (indexarticles.com)
• The objective of the other study (1) was to more completely evaluate the 39 adult subjects in the third group from the first study who are 46,XY individuals with genital ambiguity, 37 of which presented as infants or children before 2 years of age. (indexarticles.com)
• The specific goals were to determine 1) the long-term satisfaction of these patients with their gender assignments (21 as male and 18 as female) which had been given by parents and physicians, and 2) the medical/surgical/psychological outcomes in this group of 39 subjects presenting with similar degrees of significant genital ambiguity at birth but raised in opposite sexes. (indexarticles.com)

Determination2

• However, an examination of development in Map3k1-deficient XY embryos on this genetic background revealed no significant defects in testis determination, although minor abnormalities were observed, including an increase in gonadal length. (elsevier.com)
• DiNapoli, L. & Capel, B. SRY and the standoff in sex determination. (nature.com)

Patients5

• Fertility in XY patients with ovotesticular syndrome has not been reported. (urologytimes.com)
• Clinical review of 95 patients with 46, XX disorders of sex development based on the new Chicago classification. (urologytimes.com)
• Patients should be instructed about their coagulation disorder and be aware of the conditions in which prophylactic therapy is highly recommended. (medscape.com)
• The etiology of Parkinson disease is still unknown, but genetic factors (in 10-15% of all patients with Parkinson disease) and environmental stimuli influence the development of the disease (8,9). (who.int)
• In later stages, cognitive and behavioural problems may appear and sleep disorders may arise which negatively affect patients' quality of like (QOL). (who.int)

Androgens2

• In males, chorionic gonadotropin stimulates the development of cells in the testes called Leydig cells, and luteinizing hormone triggers these cells to produce androgens. (medlineplus.gov)
• Leydig cells are found within the interstitium of the testis and produce androgens to support germ cell development. (basicmedicalkey.com)

Male3

• Sex-reversed male XY mouse (left) and female XX mouse (right). (crick.ac.uk)
• The 5-alpha-reductase type 2 isoenzyme is expressed in external genital tissues early in gestation, making its action necessary for the development of normal male external genital anatomy in the fetus. (medscape.com)
• Incomplete masculinization of the male fetus can be caused by disorders of T synthesis (e.g. (unboundmedicine.com)

Tissue1

• The diagnosis is ovotesticular syndrome, one of the rarest forms of disorders of sex development, characterized by the presence of both ovarian and testicular tissue. (urologytimes.com)

Androgen insensit2

• Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development that affects the growing reproductive and genital organs of a fetus. (rarerheumatologynews.com)
• Partial androgen insensitivity syndrome (PAIS) is the next most common cause of DSD (classified as a 46,XY DSD). (unboundmedicine.com)

Abnormalities3

• Here, we report that on a mixed genetic background mice lacking Map3k1 are fertile and exhibit no overt abnormalities of testis development. (elsevier.com)
• In this mini-review, recent advances concerning development of the genital system in 46,XX individuals and related abnormalities are discussed. (hormones.gr)
• The present mini-review focuses on the 46,XX individual, with emphasis on recent advances in knowledge pertaining to ovarian development and related abnormalities. (hormones.gr)

Classification2

• Thus, this type of DSD cannot be put under a particular category of 46 XY DSD classification. (amhsjournal.org)
• In the second part, the DSD in the 46,XX individual according to the revised nomenclature and classification are discussed. (hormones.gr)

Syndrome4

• Meacham Syndrome(OMIM # 608978) is an allelic disorder with some clinical features overlapping plus cardiac and pulmonary malformations. (atlasgeneticsoncology.org)
• Turner syndrome is associated with decreased sex hormone levels and is the most common cause of primary amenorrhea. (lecturio.com)
• The syndrome can affect different stages of physical, language and social development. (fpnotebook.com)
• Down syndrome is by far the most common and best known chromosomal disorder in humans and the most common cause of intellectual disability. (medscape.com)

Individuals2

• Severely affected individuals do not develop secondary sex characteristics, such as increased body hair, at puberty. (medlineplus.gov)
• Lassen, C., Hummel, S. & Herrmann, B. Molecular sex identification of stillborn and neonate individuals ("Traufkinder") from the burial site Aegerten. (nature.com)

Developmental3

• Denys-Drash is a rare condition characterized by the triad of 46,XY disorder of sex developmental, renal dysfunction and Wilms Tumor. (atlasgeneticsoncology.org)
• 4] We also propose a possible genesis of this developmental disorder. (amhsjournal.org)
• This terminology, however, also includes the term "sex" in the description of the specific developmental abnormality with the inevitable associated connotation. (hormones.gr)

Phenotypic2

• However, the paradigm of early gender assignment has been challenged by the results of clinical and basic science research, which show that gender identity development likely begins in utero and may not be the same as chromosomal or phenotypic sex. (medscape.com)
• The disorders of sex development (DSD) are uncommon and have wide phenotypic variation. (amhsjournal.org)

TESTIS2

• The vascular and lymphatic supply of the testis are linked to the embryologic development. (basicmedicalkey.com)
• Vanishing testis or testicular regression occurs when testicular development halts around the seventh month of gestation, so the testicular remnant is often present along with an epididymis and vas deferens. (basicmedicalkey.com)

Clinical2

• Readers will also have access to an e-learning tool developed in collaboration with the Institute of Medical Education, University of Bern, which highlights the characteristics of pediatric surgical disorders and their treatment and includes clinical, radiological, and intraoperative images. (libreriastudium.it)
• 4 Clinical Research and Development Center, Qom University of Medical Sciences, Qom, Islamic Republic of Iran. (who.int)

Males4

• Males usually develop symptoms later in life, including hyperinsulinemia and lipid metabolism disorders. (lecturio.com)
• Both sexes can be affected, although the incidence is much higher in males. (lecturio.com)
• The most important genes controlling the initial phase of gonadal development, identical in females and males, are Wilms' tumor suppressor 1 ( WT1 ) and steroidogenic factor 1 ( SF1 ). (hormones.gr)
• The members in this group are the most difficult to treat in respect to gender assignment, as their genital appearance is undermasculinized as compared with nonaffected XY males or overmasculinized as compared with nonaffected XX females. (indexarticles.com)