title: Adrenal insufficiency in a man with non-classical 21-hydroxylase deficiency: consequence or coincidence?
abstract: Deficiency of the adrenal enzyme 21-hydroxylase, which is required for cortisol synthesis, appears in two forms: a rare classical variant with severe enzyme deficiency, usually presenting in neonates with ambiguous genitalia (from androgen overproduction) or adrenal crisis (from glucocorticoid and mineralocorticoid underproduction), and a common (1% of the general population) non-classical variant with mild enzyme deficiency, usually presenting in young adults with findings of androgen excess but without clinical evidence of decreased steroid hormone production. We describe a 22-year-old man who had clinical and biochemical findings consistent with adrenal insufficiency, including a favorable response to hydrocortisone replacement, in whom elevated serum levels of the cortisol precursor 17-hydroxyprogesterone were diagnostic of non-classical 21-hydroxylase deficiency and in whom no other cause of adrenal insufficiency could be identified. These findings raise the possibility that non-classical 21-hydroxylase deficiency, an extremely frequent disorder which is generally thought to be without significant morbidity, might cause or contribute to adrenal insufficiency in adults.
authors.affiliation: Department of Medicine, Walter Reed Army Medical Center, Washington, DC 20307.
authors.forename: A R
authors.initials: AR
authors.lastname: Glass
authors.forename: S G
authors.initials: SG
authors.lastname: Jackson
authors.forename: R S
authors.initials: RS
authors.lastname: Perlstein
authors.forename: H L
authors.initials: HL
authors.lastname: Wray
mesh_terms: D000307:Adrenal Gland Diseases / Q000150:complications / Q000188:drug therapy / Q000209:etiology*; D000312:Adrenal Hyperplasia, Congenital / Q000209:etiology; D000328:Adult; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use; D008297:Male
chemical_list: D006854:Hydrocortisone