Monozygotic female twins with congenital adrenal hyperplasia due to 21-hydroxylase deficiency are described and evaluated over the first 6 years of life. Despite appropriate steroids, NaCl, and fludrocortisone therapies, there was significant fluctuation in the suppression of adrenal steroid secretion. Advanced bone maturation in both was noted. For the first time, molecular genetic analysis was performed and documented that the twins were compound heterozygotes for two different mutations: the maternal allele carried the 8-bp deletion mutation, whereas the paternal allele carried the I172N missense mutation. Parental DNA samples confirmed that the mutations were on different alleles. life producing virilization of the external genitalia of affected female fetuses from the time of sexual differentiation, which occurs between 6-13 weeks of gestation 2 ' 3 . This disorder is due to mutations in the 21-hydroxylase (CYP21) gene 4 ' 5 . Human 21hydroxylase deficiency is the leading cause of impaired Cortisol synthesis in CAH 6 ' 7 . The incidence of classic 21-hydroxylase deficiency (210HD) is 1:5,000-15,000 live births, whereas a milder nonclassical form of the disease occurs in 0.3% of Caucasians and in 1-3% of European Jews. The molecular genetics have been reviewed 8 \" 10 . To date,
Journal of Pediatric Endocrinology and Metabolism – de Gruyter
Published: Apr 1, 2003
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