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.