XX ovotesticular DSD
Thursday 7 October 2010
Differentiation of testicular tissue in 46,XX individuals is seen either in 46,XX males, the majority of them with SRY gene, or in individuals, usually SRY(-), with ovotesticular disorder of sex development (OT-DSD).
Although they are sporadic cases, there are some reports on familial recurrence, including coexistence of XX maleness and OT-DSD in the same family.
Both XX maleness and XX OT-DSD are different manifestations of the same disorder of gonadal development.
Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals. Kousta E, Papathanasiou A, Skordis N. Hormones (Athens). 2010 Jul-Sep;9(3):218-131. PMID: 20688619 [Free]
XX Maleness and XX true hermaphroditism in SRY-negative monozygotic twins: additional evidence for a common origin. Maciel-Guerra AT, de Mello MP, Coeli FB, Ribeiro ML, Miranda ML, Marques-de-Faria AP, Baptista MT, Moraes SG, Guerra-Júnior G. J Clin Endocrinol Metab. 2008 Feb;93(2):339-43. PMID: 18056774 (Free)