11β-hydroxylase deficiency historical perspective: Difference between revisions
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{{ | {{11β-hydroxylase deficiency}} | ||
{{CMG}}; {{AE}} {{Ammu}} | |||
{{CMG}}; {{AE}} {{MJ}}, {{Ammu}} | |||
==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]]. 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== | ||
* | * In 1956, Dr. Walter Eberlein and Dr. Alfred M. Bongiovanni, American physicians, were the first who described [[11β-hydroxylase]] deficiency 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 | * 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, 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 | * In 1963 [[congenital adrenal hyperplasia]] was categorized as several closely related disorders, each caused by different [[enzyme]] abnormalities. | ||
* In 1965, the diagnostic approach of congenital adrenal hyperplasia was established by measuring the levels of [[Adrenal Gland|adrenal]] hormones in the [[amniotic fluid]]. | |||
* 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. | |||
* In 1982, International Newborn Screening Meeting recommended new born screening for congenital adrenal hyperplasia.<ref>History of Congenital Adrenal Hyperplasia. Texas department of state health services (2016). http://www.dshs.state.tx.us/newborn/histor~1.shtm Accessed on February 4, 2016</ref><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== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
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Latest revision as of 19:31, 18 October 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: Mehrian Jafarizade, M.D [2], Ammu Susheela, 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
- In 1956, Dr. Walter Eberlein and Dr. Alfred M. Bongiovanni, American physicians, were the first who described 11β-hydroxylase deficiency 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 1963 congenital adrenal hyperplasia was categorized as several closely related disorders, each caused by different enzyme abnormalities.
- In 1965, the diagnostic approach of congenital adrenal hyperplasia was established by measuring the levels of adrenal hormones in the amniotic fluid.
- 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.
- In 1982, International Newborn Screening Meeting recommended new born screening for congenital adrenal hyperplasia.[3][4]
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.
- ↑ History of Congenital Adrenal Hyperplasia. Texas department of state health services (2016). http://www.dshs.state.tx.us/newborn/histor~1.shtm Accessed on February 4, 2016
- ↑ 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.