Home > E. Pathology by systems > Reproductive system > 46,XX male
46,XX male
Thursday 7 October 2010
Differentiation of testicular tissue in 46,XX individuals is seen either in 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 co-existence of XX maleness and OT-DSD (ovotesticular disorder of sex development) in the same family.
Both XX maleness and XX OT-DSD are different manifestations of the same disorder of gonadal development.
References
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