Disorders of Sex Determination and Development

Abstract

Disorders of sex development (DSD) are congenital diseases in which the chromosomal, gonadal, or anatomical sex is abnormal and embraces a wide-ranging spectrum of phenotypes classified in five different groups (Hughes et al., 2006). The first class involves disorders of gonadal differentiation; the second comprehends ovotesticular DSD (formerly known as true hermaphroditism); the third includes 46,XX DSD (formerly known as female pseudohermaphroditism); the fourth encloses 46,XY DSD (formerly known as male pseudohermaphroditism); and the fifth group consists of unclassified forms. When such a child is born, both the parents and a multidisciplinary medical staff are opposed to demanding decisions regarding gender assignment, genital surgery, and fertility issues. In this article, only conditions where testes are involved is going to be addressed.