11β-hydroxylase deficiency laboratory findings: Difference between revisions
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Revision as of 20:56, 29 January 2016
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Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency Microchapters |
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Differentiating Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency from other Diseases |
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Diagnosis |
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Treatment |
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11β-hydroxylase deficiency laboratory findings On the Web |
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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 congenital adrenal hyperplasia due to 11β-hydroxylase deficiency include elevated 17α-hydroxyprogesterone, elevated androstenedione, elevated urinary 17-ketosteroids and decreased renin.
Laboratory Findings
- Elevated serum levels of 11-deoxycorticosterone[1]
- Elevated 17α-hydroxyprogesterone
- Elevated androstenedione
- Elevated urinary 17-ketosteroids
- Elevated urinary tetra hydrometabolites
- Decreased cortisol
- 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.