Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia.
J Clin Endocrinol Metab
; 84(9): 3129-34, 1999 Sep.
Article
in En
| MEDLINE
| ID: mdl-10487675
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 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.
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Database:
MEDLINE
Main subject:
Prenatal Diagnosis
/
Virilism
/
Dexamethasone
/
Adrenal Hyperplasia, Congenital
/
Glucocorticoids
Type of study:
Diagnostic_studies
/
Etiology_studies
Limits:
Female
/
Humans
/
Male
/
Pregnancy
Language:
En
Year:
1999
Type:
Article