Androgens and anti-Müllerian hormone (AMH), secreted by the foetal testis, are responsible for the development of male reproductive organs and the regression of female anlagen. Virilization of the reproductive tract in association with the absence of Müllerian derivatives in the XX foetus implies the existence of testicular tissue, which can occur in the presence or absence of SRY. Recent advancement in the knowledge of the opposing gene cascades driving to the differentiation of the gonadal ridge into testes or ovaries during early foetal development has provided insight into the molecular explanation of XX maleness.
Keywords: disorders of sex development; ovary; testis.
Conflict of interest statement
The authors declare no conflict of interest.
XX Maleness and XX True Hermaphroditism in SRY-negative Monozygotic Twins: Additional Evidence for a Common OriginAT Maciel-Guerra et al. J Clin Endocrinol Metab 93 (2), 339-43. PMID 18056774. - Case ReportsThis case provides evidence that both XX maleness and XX OT-DSD are different manifestations of the same disorder of gonadal development.
Disorders of Sex Development With Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic AspectsRP Grinspon et al. Sex Dev 10 (1), 1-11. PMID 27055195. - ReviewVirilisation of the XX foetus is the result of androgen excess, resulting most frequently from congenital adrenal hyperplasia in individuals with typical ovarian differen …
Painful Ovulation in a 46,XX SRY -Ve Adult Male With SOX9 DuplicationN Shankara Narayana et al. Endocrinol Diabetes Metab Case Rep 2017. PMID 28620497.In mammals, the early gonad is bipotent and can differentiate into either a testis or an ovary. SRY is the master switch in testis determination, responsible for differen …
46,XX Maleness and 46,XX 21-hydroxylase Deficiency in Dizygotic Twins: Association or Coincidence?ME Atabek et al. J Pediatr Endocrinol Metab 20 (6), 743-5. PMID 17663301. - Case Reports46,XX maleness is a rare abnormality of gonadal differentiation. We present dizygotic twins, one having ambiguous genitalia due to 2-hydroxylase deficiency, and the other …
Abnormalities of Gonadal DifferentiationGD Berkovitz et al. Baillieres Clin Endocrinol Metab 12 (1), 133-42. PMID 9890065. - ReviewGonadal differentiation involves a complex interplay of developmental pathways. The sex determining region Y (SRY) gene plays a key role in testis determination, but its …