11β-hydroxylase deficiency laboratory findings: Difference between revisions
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==Overview== | ==Overview== | ||
Laboratory findings consistent with the diagnosis of | Laboratory findings consistent with the diagnosis of 11β-hydroxylase deficiency include elevated [[17-Hydroxyprogesterone|17-hydroxyprogesterone]], elevated [[androstenedione]], elevated urinary 17-ketosteroids, and decreased [[renin]]. | ||
==Laboratory Findings== | ==Laboratory Findings== | ||
Laboratory findings consistent with the diagnosis of 11β-hydroxylase deficiency include:<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="pmid7988480">{{cite journal |vauthors=White PC, Curnow KM, Pascoe L |title=Disorders of steroid 11 beta-hydroxylase isozymes |journal=Endocr. Rev. |volume=15 |issue=4 |pages=421–38 |year=1994 |pmid=7988480 |doi=10.1210/edrv-15-4-421 |url=}}</ref> | Laboratory findings consistent with the diagnosis of 11β-hydroxylase deficiency include:<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="pmid7988480">{{cite journal |vauthors=White PC, Curnow KM, Pascoe L |title=Disorders of steroid 11 beta-hydroxylase isozymes |journal=Endocr. Rev. |volume=15 |issue=4 |pages=421–38 |year=1994 |pmid=7988480 |doi=10.1210/edrv-15-4-421 |url=}}</ref> | ||
* Elevated serum levels of 11-deoxycorticosterone | * Elevated serum levels of [[11-deoxycorticosterone]] | ||
* Elevated | * Elevated [[17-hydroxyprogesterone]] | ||
* Elevated androstenedione | * Elevated [[androstenedione]] | ||
* Elevated urinary 17-ketosteroids | * Elevated urinary 17-ketosteroids | ||
* Elevated urinary tetra hydrometabolites | * Elevated urinary tetra hydrometabolites | ||
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* Decreased [[aldosterone]] | * Decreased [[aldosterone]] | ||
* Decreased [[renin]] | * Decreased [[renin]] | ||
* Hypokalemia | * [[Hypokalemia]] | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} |
Revision as of 16:02, 3 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] Mehrian Jafarizade, M.D [3]
Overview
Laboratory findings consistent with the diagnosis of 11β-hydroxylase deficiency include elevated 17-hydroxyprogesterone, elevated androstenedione, elevated urinary 17-ketosteroids, and decreased renin.
Laboratory Findings
Laboratory findings consistent with the diagnosis of 11β-hydroxylase deficiency include:[1][2]
- Elevated serum levels of 11-deoxycorticosterone
- Elevated 17-hydroxyprogesterone
- Elevated androstenedione
- Elevated urinary 17-ketosteroids
- Elevated urinary tetra hydrometabolites
- Decreased cortisol
- Decreased aldosterone
- Decreased renin
- Hypokalemia
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.
- ↑ White PC, Curnow KM, Pascoe L (1994). "Disorders of steroid 11 beta-hydroxylase isozymes". Endocr. Rev. 15 (4): 421–38. doi:10.1210/edrv-15-4-421. PMID 7988480.