Congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. Its molecular basis and its remaining therapeutic problems. Endocrinol Metab Clin North Am 1991 Jun;20(2):277-96
Date
06/01/1991Pubmed ID
1879400DOI
10.1016/s0889-8529(18)30269-xScopus ID
2-s2.0-0026045042 (requires institutional sign-in at Scopus site) 22 CitationsAbstract
This article discusses congenital adrenal hyperplasia (CAH) caused by a deficiency of 21-hydroxylase, which represents 90% of all cases of CAH. As in other genetic disorders of metabolism, the symptoms of CAH are related to both the decrease of the final products of metabolism and the accumulation of precursors that are not normally secreted or that are secreted in only very small amounts. The biochemistry, pathophysiology, treatment, genetics, and long-term follow-up (including fertility and sexual orientation) of both the simple virilizing form and the salt-losing form of 21-hydroxylase deficiency are presented, as well as the possibility of prenatal treatment.
Author List
Migeon CJ, Donohoue PAAuthor
Patricia Donohoue MD Emeritus Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Adrenal Hyperplasia, CongenitalAdult
Cytochrome P-450 Enzyme System
Female
Humans
Male
Mutation
Pregnancy
Prenatal Diagnosis
