title: Management considerations for the adult with congenital adrenal hyperplasia.
abstract: The congenital adrenal hyperplasias (CAH) are a group of genetic defects in cortisol biosynthesis, most commonly steroid 21-hydroxylase deficiency (21OHD). With the advent of cortisone therapy in the 1960s and newborn screening in the 1990s, most children with 21OHD now reach adulthood. The needs and concerns of adults with 21OHD overlap with those of children, but the focus and approach shift as these patients reach adulthood. Cohort studies suggest that adults with 21OHD experience significant health concerns such as infertility, obesity, short stature, neoplasia, and bone loss, as well as reduced quality of life. Nevertheless, the spectrum of health status and disease severity is broad, but only some of the reasons for these disparities are known. This review will summarize the current state of knowledge and suggested approaches to management adults with classic 21OHD, plus a few major considerations for adults with nonclassic 21OHD.
authors: Division of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, Department of Pharmacology, and the Program for Disorders of Sexual Development, University of Michigan, Room 5560A, MSRBII, 1150 West Medical Center Drive, Ann Arbor, MI 48109, USA. Electronic address: rauchus@med.umich.edu.
authors: Richard J
authors: RJ
authors: Auchus
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000175:diagnosis / Q000201:enzymology / Q000628:therapy*; D000328:Adult; D006801:Humans; D007246:Infertility / Q000150:complications / Q000201:enzymology / Q000628:therapy; D008954:Models, Biological; D013255:Steroid 21-Hydroxylase / Q000378:metabolism; D013256:Steroids / Q000096:biosynthesis
chemical_list: D013256:Steroids; D013255:Steroid 21-Hydroxylase
keywords: 21-Hydroxylase deficiency; Adrenal gland; Androgen; Congenital adrenal hyperplasia; Steroidogenesis; Testicular adrenal rest tumor