Article
P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping.
The Journal of clinical endocrinology and metabolism - 1 Dec 2003
Martin Regina M, Lin Chin J, Costa Elaine M F, de Oliveira Maria Leocadia, Carrilho Alexandre, Villar Heloisa, Longui Carlos A, Mendonca Berenice B
Abstract excerpt
P450c17 deficiency is an autosomal recessive disorder and a rare cause of congenital adrenal hyperplasia characterized by hypertension, hypokalemia, and impaired production of sex hormones. We performed a clinical, hormonal, and molecular study of 11 patients from 6 Brazilian families with the combined 17alpha-hydroxylase/17,20-lyase deficiency phenotype. All patients had elevated basal serum levels of...
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