Gender re-reassignment in a case of XX congenital adrenal hyperplasia with former feminizing genitoplasty

Eighty percent of intersex cases are due to congenital adrenal hyperplasia (CAH) where the genitalia and/or the secondary sex characters do not allow a gender classification. There is prenatal and postnatal androgen excess in CAH due to a defect in the genes of the enzymes responsible for steroidogenesis. The most common cause of CAH, 21-hydroxilase deficiency, is associated with the masculinization of genitalia and behavior. In 46 XX CAH cases the common practice is to re-reassign the newborn’s gender as female, even in cases with severe virilization. However, there is no consensus in terms of gender reassignment for the cases that were diagnosed at a later period in their lives. In some 46 XX CAH cases, which were diagnosed after the age of 2 and reassigned as female, gender disphoria has been reported and some of these cases have chosen to lead their lives as male. In this paper gender re-reassignment in a case of 46 XX congenital adrenal hyperplasia with former feminizing genitoplasty has been discussed in terms of the reasons, such as the degree of virilization, gender of rearing, timing of the genitoplasty and androgen excess, behind maladaptation to female gender along with similar cases from the literature.