17 alpha-hydroxylase deficiency laboratory findings: Difference between revisions
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{{CMG}}; {{AE}} {{Ammu}} | {{CMG}}; {{AE}} {{Ammu}} | ||
==Overview== | ==Overview== | ||
Laboratory findings consistent with the diagnosis of | Laboratory findings consistent with the diagnosis of 17 alpha-hydroxylase deficiency include increased [[deoxycorticosterone]] and [[corticosterone]] with low [[cortisol]]. | ||
==Laboratory Findings== | ==Laboratory Findings== | ||
<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> | Diagnosis is based on laboratory findings as following:<ref name="AlqahtaniShati2015">{{cite journal|last1=Alqahtani|first1=Mohammad A.|last2=Shati|first2=Ayed A.|last3=Zou|first3=Minjing|last4=Alsuheel|first4=Ali M.|last5=Alhayani|first5=Abdullah A.|last6=Al-Qahtani|first6=Saleh M.|last7=Gilban|first7=Hessa M.|last8=Meyer|first8=Brain F.|last9=Shi|first9=Yufei|title=A Novel Mutation in theCYP11B1Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy|journal=International Journal of Endocrinology|volume=2015|year=2015|pages=1–5|issn=1687-8337|doi=10.1155/2015/595164}}</ref><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 | * 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]] | ||
* Elevated [[follicle-stimulating hormone]] | * Elevated [[follicle-stimulating hormone]] | ||
* Elevated [[luteinizing hormone]] | * Elevated [[luteinizing hormone]] | ||
* Decreased serum levels of 17-hydroxypregnenolone | * Decreased serum levels of [[17-hydroxypregnenolone]] | ||
* Decreased 17-hydroxyprogesterone | * Decreased [[17-hydroxyprogesterone]] | ||
* Decreased [[dehydroepiandrosterone]] | * Decreased [[dehydroepiandrosterone]] | ||
* Decreased [[androstenedione]] | * Decreased [[androstenedione]] | ||
Revision as of 16:55, 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][2]
- 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
- ↑ Alqahtani, Mohammad A.; Shati, Ayed A.; Zou, Minjing; Alsuheel, Ali M.; Alhayani, Abdullah A.; Al-Qahtani, Saleh M.; Gilban, Hessa M.; Meyer, Brain F.; Shi, Yufei (2015). "A Novel Mutation in theCYP11B1Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy". International Journal of Endocrinology. 2015: 1–5. doi:10.1155/2015/595164. ISSN 1687-8337.
- ↑ 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.