Taylor_Speroff's Clinical Gynecologic Endocrinology and Infe

264 Section II • Clinical Endocrinology

consistent structure, reflect genetic cause when that is known, and accommodate the spectrum of phenotypic variation. The classification and nomenclature used here, organized by chromosomal composition and causation, conform with

recommendations arising from a 2006 consensus conference involving experts in pediatric endocrinology and other specialties involved in the management of patients with DSD (Table 8.1) . 115

TABLE 8.1 Disorders of Sexual Development 46,XX disorders of sexual development

Disorders of gonadal (ovarian) development Ovotesticular disorder of sexual development (true hermaphroditism) Testicular disorder of sexual development (46,XX male sex reversal) Gonadal dysgenesis Androgen excess—fetal origin (congenital adrenal hyperplasia)

●● 21-hydroxylase (P450c21) deficiency ●● 11 β -hydroxylase (P450c11b) deficiency ●● 3 β -hydroxysteroid dehydrogenase deficiency

Androgen excess—fetoplacental origin ●● Aromatase (P450arom) deficiency ●● P450 oxidoreductase deficiency Androgen excess—maternal origin (gestational hyperandrogenism) ●● Drug ingestion ●● Excess androgen production

❍❍ Pregnancy luteoma ❍❍ Theca-lutein cysts Other disorders of genital development ●● Cloacal exstrophy ●● Müllerian agenesis (Mayer-Rokitansky-Küster-Hauser syndrome) ●● Müllerian, renal, and cervicothoracic somite dysplasia (MURCS association)

46,XY disorders of sexual development

Disorders of gonadal (testicular) development ●● Complete gonadal dysgenesis (Swyer syndrome) ●● Partial gonadal dysgenesis ●● Testicular regression syndrome ●● Ovotesticular disorder of sexual development Disorders of androgen synthesis ●● Steroid 5 α -reductase deficiency ●● 17 α -hydroxylase (P450c17) deficiency ●● 3 β -hydroxysteroid dehydrogenase deficiency ●● 17 β -hydroxysteroid dehydrogenase deficiency ●● P450 oxidoreductase deficiency ●● Steroid acute regulatory (StAR) protein deficiency Disorders of androgen action ●● Complete androgen insensitivity syndrome ●● Incomplete (partial) androgen insensitivity syndromes LH receptor defects ●● Leydig cell hypoplasia Disorders of antimüllerian hormone (AMH) and its receptor ●● Hernia uterine inguinale syndrome

Sex chromosome 45,X (Turner syndrome and variants) 47,XXY (Klinefelter syndrome and variants) 45,X/46,XY (mixed gonadal dysgenesis, ovotesticular disorder of sexual development) 46,XX/46,XY (chimerism, ovotesticular disorder of sexual development) Copyright © 2019 Wolters Kluwer, Inc. Unauthorized reproduction of the content is prohibited. disorders of sexual development