Disorders of sex development in the context of "SRY"

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⭐ Core Definition: Disorders of sex development

Disorders of sex development (DSDs), also known as differences in sex development, variations in sex characteristics (VSC), sexual anomalies, or sexual abnormalities, are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical.

DSDs are subdivided into groups in which the labels generally emphasize the karyotype's role in diagnosis: 46,XX; 46,XY; sex chromosome; XX, sex reversal; ovotesticular disorder; and XY, sex reversal.

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👉 Disorders of sex development in the context of SRY

Sex-determining region Y protein (SRY), or testis-determining factor (TDF), is a DNA-binding protein (also known as gene-regulatory protein/transcription factor) encoded by the SRY gene that is responsible for the initiation of male sex determination in therian mammals (placentals and marsupials). SRY is an intronless sex-determining gene on the Y chromosome. Mutations in this gene lead to a range of disorders of sex development with varying effects on an individual's phenotype and genotype.

SRY is a member of the SOX (SRY-like box) gene family of DNA-binding proteins. When complexed with the steroidogenic factor 1 (SF-1) protein, SRY acts as a transcription factor that causes upregulation of other transcription factors, most importantly SOX9. Its expression causes the development of primary sex cords, which later develop into seminiferous tubules. These cords form in the central part of the yet-undifferentiated gonad, turning it into a testis. The now-induced Leydig cells of the testis then start secreting testosterone, while the Sertoli cells produce anti-Müllerian hormone. Effects of the SRY gene, which normally take place 6–8 weeks after fetus formation, inhibit the growth of female anatomical structure in males. The gene also contributes towards developing the secondary sexual characteristics of males.

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Disorders of sex development in the context of Sexual minorities

Sexual and gender minorities (SGM) comprise individuals whose sexual identity, sexual orientation, sexual behavior, or gender identity differ from the majority of the surrounding society. Sexual minorities include lesbians, gay men, bisexual people, asexual people, and other non-heterosexual people, Gender minorities include transgender people, non-binary (including third gender), and intersex individuals. Gender, sexual and romantic minorities (GSRM) includes individuals of a minority romantic orientation such as aromanticism.

Sexual and gender minorities includes LGBTQ people as well as those who do not identify as LGBTQ. In 2015, the United States National Institutes of Health described SGM as an "umbrella term that encompasses populations included in the acronym "LGBTI" (lesbian, gay, bisexual, transgender and intersex), and those whose sexual orientation or gender identity varies. It includes those who may not self-identify as LGBTI (e.g., queer, questioning, two-spirit, asexual, men who have sex with men, women who have sex with women, gender variant), or those who have a specific medical condition affecting reproductive development (e.g., individuals with differences or disorders of sex development, who sometimes identify as intersex)."

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Disorders of sex development in the context of Definitions of intersex

Various criteria have been offered for the definition of intersex, including ambiguous genitalia, atypical genitalia, and differential sexual development. Ambiguous genitalia occurs in roughly 0.05% of all births, usually caused by masculinization or feminization during pregnancy, these conditions range from full androgen insensitivity syndrome to ovotesticular syndrome.

1.7% of people are born with a disorder of sexual development (DSD) as defined by the DSD consortium, such as those with Klinefelter's syndrome. The DSD was specifically made to be as inclusive to all atypical sexual development; not all conditions within the DSD cause sexual ambiguity or affect individuals to the same extent. In other estimates, Definitions are limited to ambiguous conditions in which typical chromosomal categorization patterns is inconsistent with phenotypic sex, or in which the phenotype is not easily classifiable as either male or female," with the prevalence of about 0.018%.

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Disorders of sex development in the context of Ovotesticular syndrome

Ovotesticular syndrome (also known as ovotesticular disorder or OT-DSD) is a rare congenital condition where an individual is born with both ovarian and testicular tissue. It is one of the rarest disorders of sex development (DSDs), with only 500 reported cases. Commonly, one or both gonads is an ovotestis containing both types of tissue. Although it is similar in some ways to mixed gonadal dysgenesis, the conditions can be distinguished histologically.

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