11β-hydroxylase deficiency historical perspective: Difference between revisions
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==Overview== | ==Overview== | ||
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]]. | 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]]. In 1999, White was the first to discover the association between homozygous [[mutation]] in the [[CYP11B1]] [[gene]] and development of 11β-hydroxylase deficiency. | ||
==Discovery== | ==Discovery== | ||
* 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> | * 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, Dr. Perrin C. White, an American endocrinologist, was the first to discover the association between homozygous mutation in the [[CYP11B1]] gene and development of 11β-hydroxylase deficiency.<ref name="pmid2022736">{{cite journal| | * In 1999, Dr. Perrin C. White, an American endocrinologist, was the first to discover the association between homozygous mutation in the [[CYP11B1]] gene and development of 11β-hydroxylase deficiency.<ref name="pmid2022736">{{cite journal |vauthors=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. |volume=87 |issue=5 |pages=1664–7 |year=1991 |pmid=2022736 |pmc=295260 |doi=10.1172/JCI115182 |url=}}</ref> | ||
==Landmark Events in the Development of Treatment Strategies== | ==Landmark Events in the Development of Treatment Strategies== | ||
* In 1979, Dr. Ariel Rosler was the first to discover that the detection of increased levels of tetrahydro-11-deoxycortisol in the [[amniotic fluid]] could be used for the diagnosis of 11β-hydroxylase deficiency.<ref name="pmid314453">{{cite journal| author=Rösler A, Leiberman E, Rosenmann A, Ben-Uzilio R, Weidenfeld J| title=Prenatal diagnosis of 11beta-hydroxylase deficiency congenital adrenal hyperplasia. | journal=J Clin Endocrinol Metab | year= 1979 | volume= 49 | issue= 4 | pages= 546-51 | pmid=314453 | doi=10.1210/jcem-49-4-546 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=314453 }} </ref> | * In 1979, Dr. Ariel Rosler was the first to discover that the detection of increased levels of [[Deoxycortisol|tetrahydro-11-deoxycortisol]] in the [[amniotic fluid]] could be used for the diagnosis of 11β-hydroxylase deficiency.<ref name="pmid314453">{{cite journal| author=Rösler A, Leiberman E, Rosenmann A, Ben-Uzilio R, Weidenfeld J| title=Prenatal diagnosis of 11beta-hydroxylase deficiency congenital adrenal hyperplasia. | journal=J Clin Endocrinol Metab | year= 1979 | volume= 49 | issue= 4 | pages= 546-51 | pmid=314453 | doi=10.1210/jcem-49-4-546 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=314453 }} </ref> | ||
==References== | ==References== | ||
Revision as of 20:35, 2 August 2017
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11β-hydroxylase deficiency Microchapters |
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Differentiating 11β-hydroxylase deficiency from other Diseases |
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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
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. In 1999, White was the first to discover the association between homozygous mutation in the CYP11B1 gene and development of 11β-hydroxylase deficiency.
Discovery
- 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, Dr. Perrin C. White, an American endocrinologist, was the first to discover the association between homozygous mutation in the CYP11B1 gene and development of 11β-hydroxylase deficiency.[2]
Landmark Events in the Development of Treatment Strategies
- In 1979, Dr. Ariel Rosler was the first to discover that the detection of increased levels of tetrahydro-11-deoxycortisol in the amniotic fluid could be used for the diagnosis of 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.