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

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Abstract

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.

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Cerame, B. I., Newfield, R. S., Pascoe, L., Curnow, K. M., Nimkarn, S., Roe, T. F., … Wilson, R. C. (1999). Prenatal diagnosis and treatment of 11β-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia. Journal of Clinical Endocrinology and Metabolism, 84(9), 3129–3134. https://doi.org/10.1210/jcem.84.9.5976

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