11β-hydroxylase deficiency overview: Difference between revisions
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==Historical Perspective== | ==Historical Perspective== | ||
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.<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> | |||
==Classification== | ==Classification== | ||
Revision as of 11:17, 28 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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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]
Overview
Historical Perspective
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]
Classification
Pathophysiology
Causes
Differential Diagnosis
Epidemiology and Demographics
Risk Factors
Screening
Natural history, Complications and Prognosis
History and Symptoms
Physical Examination
Laboratory Findings
CT
MRI
Echocardiography or Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Medical Therapy
Surgery
Secondary Prevention
Cost-effectiveness of the Therapy
Future or Investigational therapies
Reference
- ↑ 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.