Fertility potential should be considered by the multidisciplinary team when addressing gender assignment, surgical management, and patient and family counselling of individuals with disorders of sex development. In 46,XY individuals, defects of gonadal differentiation or androgen or anti-Müllerian hormone synthesis or action result in incomplete or absent masculinization. In severe forms, raised as females, motherhood is possible with oocyte donation if Müllerian ducts have developed. In milder forms, raised as males, azoospermia or oligospermia are frequently found, however paternity has been reported. Most 46,XX patients with normal ovarian organogenesis are raised as females, and fertility might be possible after treatment.
Keywords: AMH; Ambiguous genitalia; Androgens; Aromatase; Gonadal dysgenesis; Hypospadias; Müllerian remnants; Ovotestis.
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