Disorders in the initial steps of steroid hormone synthesis. Table 2. Defects in androgen biosynthesis causing 46,XY disorders of sexual development. J Urol. In isolated 17,lyase deficiency, testicular, but not adrenal, function is impaired Gonadal histology in patients with male pseudohermaphroditism and atypical gonadal dysgenesis: relation to theories of sex differentiation.
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Trends Endocrinol Metab. B The undifferentiated gonad is exposed to pro-testicular and pro-ovarian factors. Disorders of androgen or AMH action do not initially affect testicular hormone production and, together with non-endocrine DSD or unclassified disorderswill not be further discussed in this review.
Front Endocrinol Lausanne. Even in species where there is a well-documented master regulator gene, its effects can be overridden by a downstream gene. The p. The three stages of fetal sex differentiation. Sci Signal.
Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin.
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. Sexual dimorphism of skeletal structure develops during childhood, and becomes more pronounced at adolescence. Specific genes induce gonadal differences, which produce hormonal differences, which cause anatomic differences, leading to psychological and behavioral differences, some of which are innate and some induced by the social environment.
When hormone defects cannot explain it: Malformative disorders of sex development. Sohval AR.