11β-hydroxylase deficiency historical perspective: Difference between revisions
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==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, Dr. Perrin C. 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.<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> | * 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 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> | ||
==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 the 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="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, 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 congenital adrenal hyperplasia due to 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> | ||
Revision as of 16:43, 9 February 2016
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Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency Microchapters |
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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]
Overview
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]
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, Dr. Perrin C. White, an American endocrinologist, 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 the 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
- ↑ 1.0 1.1 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.
- ↑ 2.0 2.1 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.