11β-hydroxylase deficiency laboratory findings
|
11β-hydroxylase deficiency Microchapters |
|
Differentiating 11β-hydroxylase deficiency from other Diseases |
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
11β-hydroxylase deficiency laboratory findings On the Web |
|
American Roentgen Ray Society Images of 11β-hydroxylase deficiency laboratory findings |
|
Directions to Hospitals Treating Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency |
|
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 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][2]
- Elevated 17α-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.