Prenatal Diagnosis and Treatment of 11β-Hydroxylase Deficiency Congenital Adrenal Hyperplasia Resulting in Normal Female Genitalia1

• Published in: The journal of clinical endocrinology and metabolism 1999-09, Vol.84 (9), p.3129-3134
• Main Authors: Cerame, Barbara I, Newfield, Ron S, Pascoe, Leigh, Curnow, Kathleen M, Nimkarn, Saroj, Roe, Thomas F, New, Maria I, Wilson, Robert C
• Format: Article
• Language: English
• ISSN: 0021-972X; 1945-7197
• 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 11β-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 11β-hydroxylase deficiency CAH. The family had two girls affected with 11β-hydroxylase deficiency born with severe ambiguous genitalia who were both homozygous for the T318M mutation in the CYP11B1 gene, which codes for the 11β-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 (R394Δ1) in the CYP11B1 gene in this family.