11β-hydroxylase deficiency historical perspective: Difference between revisions
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* 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. | * 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.<ref name="pmid2022736">{{cite journal| author=White PC, Dupont J, New MI, Leiberman E, Hochberg Z, Rösler A| title=A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin. | journal=J Clin Invest | year= 1991 | volume= 87 | issue= 5 | pages= 1664-7 | pmid=2022736 | doi=10.1172/JCI115182 | pmc=PMC295260 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2022736 }} </ref> | ||
==Impact on Cultural History== | ==Impact on Cultural History== | ||
Revision as of 15:32, 27 January 2016
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Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency Microchapters |
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Differentiating Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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11β-hydroxylase deficiency historical perspective On the Web |
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American Roentgen Ray Society Images of 11β-hydroxylase deficiency historical perspective |
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11β-hydroxylase deficiency historical perspective in the news |
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Directions to Hospitals Treating Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency |
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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.[2]
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.
- ↑ 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.