Article
Monozygotic twins with congenital adrenal hyperplasia: long-term endocrine evaluation and gene analysis.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2000
AvRuskin Theodore W, Witchel Selma F, Taha Doris R, Juan Christina S
Abstract excerpt
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...
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