17 alpha-hydroxylase deficiency laboratory findings
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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 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. PMID 14671162. doi:10.1210/jc.2003-030988.