Fertility Issues in Disorders of Sex Development

Abstract

Fertility potential in patients with disorders of sex development is influenced by specific factors related to the causal disorder, and general functional and anatomic features, irrespective of the etiology. In patients with testicular dysgenesis, severe forms are raised as females, and motherhood might be possible with hormone replacement and oocyte donation. In patients with specific defects of androgen synthesis or action, the absence of uterus and Fallopian tubes hampers motherhood. In some virilized 46,XX patients raised as females, fertility is possible after adequate hormonal and surgical treatments. Patients raised as males are most frequently oligospermic or azoospermic, with the exception for milder forms, where full spermatogenesis can be achieved spontaneously or after hormonal treatment.