Diagnosis and treatment of disorders of sexual development

REY, RA; JOSSO, N

Endocrinology: Adult and Pediatric, 7th edition

Elsevier Saunders

Lugar: Philadelphia; Año: 2016; p. 2086 - 2118

KEY POINTS: -Wolffian ducts, the urogenital sinus and external genitalia virilize in proportion to androgen activity (androgen levels and androgen receptor expression in target organs) during the first trimester of fetal life. Müllerian duct regression is commensurate with AMH activity (AMH produced by the gonads and AMH receptor expression in Müllerian ducts) during the first 10 weeks of fetal life. -Defects in gonadal differentiation lead to Dysgenetic DSD, consisting of lack of virilization and persistence of Müllerian derivatives in patients with a Y chromosome. There is an increased risk of gonadal tumor development. -Defects in androgen production or action lead to a form of hormone-dependent DSD, consisting of lack of virilization, without persistence of Müllerian derivatives in patients with a Y chromosome. -Defects in AMH production or action lead to the Persistent Müllerian Duct Syndrome, characterized by the persistence of Müllerian remnants in an otherwise normally virilized newborn. -Excessive levels of androgens result in virilization of XX fetuses. -Management of patients with DSD requires a holistic, multi-disciplinary approach: evaluation and long-term management must be performed at a center with an experienced multidisciplinary team. -Gender assignment in newborns should be delayed until expert evaluation has taken place; all individuals should receive a gender assignment following open communication with parents whose participation in decision making is encouraged. Patient and family concerns should be respected and addressed in strict confidence.