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46,XX/46,XY chimeric or mosaic is associated with a wide spectrum of different physical presentations, with cases ranging from having a completely normal male or female phenotype [7] [8] [9] to some cases having ovotesticular syndrome. Due to this variation, genetic testing is the only way to reliably make a diagnosis.
17β-Hydroxysteroid dehydrogenase III deficiency is a rare autosomal recessive disorder of sexual development condition that is a cause of 46,XY disorder of sex development (46,XY DSD). The impaired testosterone biosynthesis by 17β-hydroxysteroid dehydrogenase III (17β-HSD III), [ 6 ] [ 7 ] presents as atypical genitalia in affected males.
This list of pharmaceutical compound number prefixes provides codes used by individual pharmaceutical companies when naming their pharmaceutical drug candidates. . Pharmaceutical companies generally produce large numbers of compounds in the research phase for which it is impractical to use often long and cumbersome systematic chemical names, and for which the effort to generate nonproprietary ...
The condition also occurs in XY males, as they suffer from the effects of low cortisol and salt-wasting, not virilization. Persistent Müllerian duct syndrome – A rare type of pseudohermaphroditism that occurs in 46 XY males, caused by either a mutation in the Müllerian inhibiting substance (MIS) gene, on 19p13, or its type II receptor, 12q13.
XY complete gonadal dysgenesis, also known as Swyer syndrome, is a type of defect hypogonadism in a person whose karyotype is 46,XY. Though they typically have normal vulvas , [ 1 ] the person has underdeveloped gonads, fibrous tissue termed " streak gonads ", and if left untreated, will not experience puberty .
Androgen insensitivity syndrome is the largest single entity that leads to 46,XY undermasculinized genitalia. [ 9 ] Management of AIS is currently limited to symptomatic management ; no method is currently available to correct the malfunctioning androgen receptor proteins produced by AR gene mutations.
XX male syndrome, also known as de la Chapelle syndrome, is a rare intersex condition in which an individual with a 46,XX karyotype develops a male phenotype. [2] Synonyms for XX male syndrome include 46,XX testicular difference of sex development (or 46,XX DSD) [3] [4] [5] [6]
DSDs are divided into the following categories, emphasizing the karyotype's role in diagnosis: [9] [10] 46,XX DSD: Genetic Female Sex Chromosomes. Mainly virilized females as a result of congenital adrenal hyperplasia (CAH) and girls with aberrant ovarian development. 46,XY DSD: Genetic Male Sex Chromosomes.