17 alpha-hydroxylase deficiency laboratory findings

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]

Overview

Laboratory findings consistent with the diagnosis of 17 alpha-hydroxylase deficiency include increased deoxycorticosterone and corticosterone with low cortisol.

Diagnosis is based on laboratory findings as following:^[1]

Elevated levels of deoxycorticosterone and corticosterone (>4,000 ng/dL, >116 nmol/L) with low cortisol (<5 mcg/dL, <138 nmol/L) is diagnostic.
Elevated adrenocorticotropic hormone
Elevated follicle-stimulating hormone
Elevated luteinizing hormone
Decreased serum levels of 17-hydroxypregnenolone
Decreased 17-hydroxyprogesterone
Decreased dehydroepiandrosterone
Decreased androstenedione
Decreased testosterone
Decreased 17-hydroxylase corticosteroid
Decreased urinary 17-ketosteroid
Decreased estrogen
Decreased aldosterone
Decreased renin

Genetic testing can detect approximately 95 percent of mutations.
Genetic testing should only be done if the laboratory tests are non diagnostic or for purposes of genetic counseling.

↑ Martin RM, Lin CJ, Costa EM, de Oliveira ML, Carrilho A, Villar H, Longui CA, Mendonca BB (2003). “P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping”. J. Clin. Endocrinol. Metab. 88 (12): 5739–46. doi:10.1210/jc.2003-030988. PMID 14671162.