11β-hydroxylase deficiency laboratory findings: Difference between revisions
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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 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 [[17-hydroxyprogesterone]] | * Elevated [[17-hydroxyprogesterone]] | ||
* Elevated [[androstenedione]] | * Elevated [[androstenedione]] | ||
* Elevated urinary 17-ketosteroids | * Elevated [[urinary]] 17-ketosteroids | ||
* Elevated urinary tetra hydrometabolites | * Elevated urinary tetra hydrometabolites | ||
* Decreased [[cortisol]] | * Decreased [[cortisol]] | ||
Latest revision as of 19:40, 18 October 2017
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11β-hydroxylase deficiency Microchapters |
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Differentiating 11β-hydroxylase deficiency from other Diseases |
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Diagnosis |
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11β-hydroxylase deficiency laboratory findings On the Web |
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Directions to Hospitals Treating Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency |
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Risk calculators and risk factors for 11β-hydroxylase deficiency laboratory findings |
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
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
- ↑ 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.