17 alpha-hydroxylase deficiency laboratory findings: Difference between revisions
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==Laboratory Findings== | ==Laboratory Findings== | ||
Diagnosis is based on laboratory findings as following: | Diagnosis is based on laboratory findings as following:<ref name="pmid14671162">{{cite journal |vauthors=Martin RM, Lin CJ, Costa EM, de Oliveira ML, Carrilho A, Villar H, Longui CA, Mendonca BB |title=P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping |journal=J. Clin. Endocrinol. Metab. |volume=88 |issue=12 |pages=5739–46 |year=2003 |pmid=14671162 |doi=10.1210/jc.2003-030988 |url=}}</ref> | ||
* 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 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 [[adrenocorticotropic hormone]] | ||
Revision as of 16:57, 7 August 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, 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:[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
References
- ↑ 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.