17 alpha-hydroxylase deficiency laboratory findings

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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.

Laboratory Findings

Diagnosis is based on laboratory findings as following:

• 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

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.