21-hydroxylase deficiency historical perspective

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Mehrian Jafarizade, M.D [2]

Overview

Congenital adrenal hyperplasia was first discovered in 1865 by an Italian pathologist, Luigi De Crecchio. Explanation of hormonal aspects and molecular characteristics remained unclear until 1980. From 1980 scientists started to describe enzymes and molecular basis of 21-hydroxyase deficiency.

Historical Perspective

Discovery

Landmark events in the understanding and discovery of adrenal hormones include the following:[1][2][3][4][5]

The molecular era

References

  1. Delle Piane L, Rinaudo PF, Miller WL (2015). "150 years of congenital adrenal hyperplasia: translation and commentary of De Crecchio's classic paper from 1865". Endocrinology. 156 (4): 1210–7. PMID 25635623. doi:10.1210/en.2014-1879. 
  2. Melmed, Shlomo (2016). Williams textbook of endocrinology. Philadelphia, PA: Elsevier. ISBN 978-0323297387. =
  3. HENCH PS, KENDALL EC (1949). "The effect of a hormone of the adrenal cortex (17-hydroxy-11-dehydrocorticosterone; compound E) and of pituitary adrenocorticotropic hormone on rheumatoid arthritis". Proc Staff Meet Mayo Clin. 24 (8): 181–97. PMID 18118071. 
  4. Biglieri EG, Herron MA, Brust N (1966). "17-hydroxylation deficiency in man". J. Clin. Invest. 45 (12): 1946–54. PMC 292880Freely accessible. PMID 4288776. doi:10.1172/JCI105499. 
  5. 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

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