17 alpha-hydroxylase deficiency laboratory findings: Difference between revisions
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{{ | {{17 alpha-hydroxylase deficiency}} | ||
{{CMG}}; {{AE}} {{ | {{CMG}}; {{AE}} {{MJ}} | ||
==Overview== | ==Overview== | ||
Laboratory findings consistent with the diagnosis of 17 alpha-hydroxylase deficiency include increased [[deoxycorticosterone]] and [[corticosterone]] with low [[cortisol]]. | Laboratory findings consistent with the diagnosis of 17 alpha-hydroxylase deficiency include increased [[deoxycorticosterone]] and [[corticosterone]] with low [[cortisol]]. | ||
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* Decreased [[aldosterone]] | * Decreased [[aldosterone]] | ||
* Decreased [[renin]] | * 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]]. | |||
==References== | ==References== | ||
Latest revision as of 12:17, 23 October 2017
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17 alpha-hydroxylase deficiency Microchapters |
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Differentiating 17 alpha-hydroxylase deficiency from other Diseases |
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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:[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
- 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.
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.