11β-hydroxylase deficiency historical perspective

Jump to: navigation, search

Congenital adrenal hyperplasia main page

11β-hydroxylase deficiency Microchapters

Home

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating 11β-hydroxylase deficiency from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

11β-hydroxylase deficiency historical perspective On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of 11β-hydroxylase deficiency historical perspective

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on 11β-hydroxylase deficiency historical perspective

CDC on 11β-hydroxylase deficiency historical perspective

11β-hydroxylase deficiency historical perspective in the news

Blogs on 11β-hydroxylase deficiency historical perspective

Directions to Hospitals Treating Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

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: 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

  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. 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.
  3. 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
  4. 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.



Linked-in.jpg