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Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

J Clin Endocrinol Metab. 1999 Mar;84(3):930-6. doi: 10.1210/jcem.84.3.5565.

Abstract

Women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, especially those patients with the salt-losing form, have decreased fertility rates. Pregnancy experience in this population is limited. We report the pregnancy outcomes and serial measurements of maternal serum steroid levels in four women with classic 21-hydroxylase deficiency, three of whom were female pseudohermaphrodites with the salt-losing form. These glucocorticoid-treated women gave birth to four healthy female newborns with normal female external genitalia, none of whom were affected with 21-hydroxylase deficiency. In three women, circulating androgen levels increased during gestation, but remained within the normal range for pregnancy during glucocorticoid therapy. In the fourth patient, androgen levels were strikingly elevated during gestation despite increasing the dose of oral prednisone from 5 to 15 mg/day (two divided doses). Notwithstanding the high maternal serum concentration of androgens, however, placental aromatase activity was sufficient to prevent masculinization of the external genitalia of the female fetus and quite likely the fetal brain, consistent with the idea that placental aromatization of androgens to estrogens is the principal mechanism that protects the female fetus from the masculinizing effects of maternal hyperandrogenism. These four patients highlight key issues in the management of pregnancy in women with 21-hydroxylase deficiency, particularly the use of endocrine monitoring to assess adrenal androgen suppression in the mother, especially when the fetus is female. Recommendations for the management of pregnancy and delivery in these patients are discussed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adrenal Hyperplasia, Congenital* / blood
  • Adrenal Hyperplasia, Congenital* / drug therapy
  • Adrenal Hyperplasia, Congenital* / etiology*
  • Adult
  • Androgens / blood
  • Aromatase / blood
  • Disorders of Sex Development / etiology
  • Female
  • Glucocorticoids / therapeutic use
  • Humans
  • Prednisone / therapeutic use
  • Pregnancy
  • Pregnancy Complications*
  • Pregnancy Outcome*
  • Prenatal Care
  • Virilism / prevention & control

Substances

  • Androgens
  • Glucocorticoids
  • Aromatase
  • Prednisone