11β-hydroxylase deficiency historical perspective
|
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency Microchapters |
|
Differentiating Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
11β-hydroxylase deficiency historical perspective On the Web |
|
American Roentgen Ray Society Images of 11β-hydroxylase deficiency historical perspective |
|
11β-hydroxylase deficiency historical perspective in the news |
|
Directions to Hospitals Treating Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency |
|
Risk calculators and risk factors for 11β-hydroxylase deficiency historical perspective |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]
Overview
Discovery
- Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency was first described by Dr. Walter Eberlein and Dr. Alfred M. Bongiovanni, American physicians, in 1956 based on the study they conducted on accumulated steroids.[1]
- In 1999, White was the first to discover the association between homozygous mutation in the CYP11B1 gene and development of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.[2]
Landmark Events in the Development of Treatment Strategies
- In 1979, Rosler was the first to discover that detection of increased levels of tetrahydro-11-deoxycortisol in the amniotic fluid could be used for the diagnosis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.[3]
References
- ↑ BONGIOVANNI AM, EBERLEIN WR (1956). "Plasma and urinary corticosteroids in the hypertensive form of congenital adrenal hyperplasia". J Biol Chem. 223 (1): 85–94. PMID 13376579.
- ↑ White PC, Dupont J, New MI, Leiberman E, Hochberg Z, Rösler A (1991). "A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin". J Clin Invest. 87 (5): 1664–7. doi:10.1172/JCI115182. PMC 295260. PMID 2022736.
- ↑ Rösler A, Leiberman E, Rosenmann A, Ben-Uzilio R, Weidenfeld J (1979). "Prenatal diagnosis of 11beta-hydroxylase deficiency congenital adrenal hyperplasia". J Clin Endocrinol Metab. 49 (4): 546–51. doi:10.1210/jcem-49-4-546. PMID 314453.