Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia

J Clin Endocrinol Metab. 1999 Sep;84(9):3129-34. doi: 10.1210/jcem.84.9.5976.


Congenital adrenal hyperplasia (CAH) consists of autosomal recessive disorders of cortisol biosynthesis, which in the majority of cases result from 21-hydroxylase deficiency. Another enzymatic defect causing CAH is 11beta-hydroxylase deficiency. In both forms, the resulting excessive androgen secretion causes genital virilization of the female fetus. For over 10 yr female fetuses affected with 21-hydroxylase deficiency have been safely and successfully prenatally treated with dexamethasone. We report here the first successful prenatal treatment with dexamethasone of an affected female with 11beta-hydroxylase deficiency CAH. The family had two girls affected with 1beta-hydroxylase deficiency born with severe ambiguous genitalia who were both homozygous for the T318M mutation in the CYP11B1 gene, which codes for the 11beta-hydroxylase enzyme. In the third pregnancy in this family, the female fetus was treated in utero by administering dexamethasone to the mother, starting at 5 weeks gestation. The treatment was successful, as the newborn was not virilized and had normal female external genitalia. A second family with two affected sons was also studied in preparation for a future pregnancy. We report a novel 1-bp deletion in codon 394 (R394delta1) in the CYP11B1 gene in this family.

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* / diagnosis*
  • Adrenal Hyperplasia, Congenital* / drug therapy*
  • Adrenal Hyperplasia, Congenital* / genetics
  • Chorionic Villi Sampling
  • Consanguinity
  • DNA Mutational Analysis
  • Dexamethasone / administration & dosage
  • Dexamethasone / therapeutic use*
  • Female
  • Fetal Diseases / diagnosis
  • Fetal Diseases / drug therapy
  • Fetal Diseases / genetics
  • Gestational Age
  • Glucocorticoids / administration & dosage
  • Glucocorticoids / therapeutic use*
  • Humans
  • Male
  • Maternal-Fetal Exchange
  • Mutation, Missense
  • Pedigree
  • Pregnancy
  • Prenatal Diagnosis*
  • Steroid 11-beta-Hydroxylase / genetics
  • Virilism / embryology
  • Virilism / etiology
  • Virilism / prevention & control*


  • Glucocorticoids
  • Dexamethasone
  • Steroid 11-beta-Hydroxylase