Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency laboratory findings
Introduction
Overview
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
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
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
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.
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]