11β-hydroxylase deficiency laboratory findings

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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]

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

  1. 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.
  2. 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.