11β-hydroxylase deficiency historical perspective: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
No edit summary |
||
| Line 6: | Line 6: | ||
==Discovery== | ==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.<ref name="pmid13376579">{{cite journal| author=BONGIOVANNI AM, EBERLEIN WR| title=Plasma and urinary corticosteroids in the hypertensive form of congenital adrenal hyperplasia. | journal=J Biol Chem | year= 1956 | volume= 223 | issue= 1 | pages= 85-94 | pmid=13376579 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13376579 }} </ref> | * 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.<ref name="pmid13376579">{{cite journal| author=BONGIOVANNI AM, EBERLEIN WR| title=Plasma and urinary corticosteroids in the hypertensive form of congenital adrenal hyperplasia. | journal=J Biol Chem | year= 1956 | volume= 223 | issue= 1 | pages= 85-94 | pmid=13376579 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13376579 }} </ref> | ||
* 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. | |||
==Landmark Events in the Development of Treatment Strategies== | ==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. | * 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. | ||
Revision as of 15:31, 27 January 2016
|
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.
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.
Impact on Cultural History
Famous Cases
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.