Infertility and Reproductive Function in Patients with Congenital Adrenal Hyperplasia Pathophysiology, Advances in Management, and Recent Outcomes a a b, Oksana Lekarev, DO , Karen Lin-Su, MD , Maria G. Vogiatzi, MD * KEYWORDS 21-Hydroxylase deficiency Congenital adrenal hyperplasia Fertility Pregnancy Testicular adrenal rest tumors (TART) KEY POINTS Fertility data in CAH focus primarily on 21-hydroxylase deficiency. Fertility rates in women with CAH have improved over time. Current pregnancy rates approach 90% among those with classic disease seeking conception. Children born to mothers with CAH typically have no evidence of virilization. Fertility rates are decreased in men with classic CAH; testicular adrenal rest tumors are a common cause of infertility, require surveillance with repeated ultrasonography, and can respond to therapy with glucocorticoids. Suppression of adrenal androgen secretion represents the first treatment strategy toward spontaneous conception in both men and women with CAH. INTRODUCTION Congenital adrenal hyperplasia (CAH) refers to a group of inherited autosomal reces- sive disorders that lead to defective steroidogenesis. Cortisol production in the zona fasciculata of the adrenal cortex occurs in several enzyme-mediated steps. Compro- mised enzyme function at each step leads to a characteristic combination of elevated The authors have nothing to disclose. a Pediatric Endocrinology, Weill Cornell Medical College, New York, NY, USA; b Division of Endocrinology and Diabetes, Children’s Hospital of Philadelphia, 3401 Civic Center Blvd, Phila- delphia, PA 19104, USA * Corresponding author. Division of Endocrinology and Diabetes, Children’s Hospital of Phila- delphia, 3401 Civic Center Blvd, Philadelphia, PA 19104. E-mail address:
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