Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations.

Abstract excerpt

BACKGROUND: Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by deficiency of various enzymes responsible for adrenal steroidogenesis. 11-Beta-hydroxylase deficiency (11βOHD) and 17-hydroxylase/17,20-lyase deficiency (17OHD) are rare causes of CAH. METHODS/RESULTS: We hereby present a 65-year-old man with 11βOHD and a 33-year-old woman with 17OHD. The man with 11βOHD presented...

Topics

• Adrenal Hyperplasia, Congenital
• Adult
• Aged
• Exons
• Female
• Fertility
• Humans
• Male
• Mutation
• Steroid 11-beta-Hydroxylase
• Steroid 17-alpha-Hydroxylase