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 by Luigi De Crecchio, an Italian pathologist.
Historical Perspective
Congenital adrenal hyperplasia first time seen in 1865 by Luigi De Crecchio, an Italian pathologist, in a man at autopsy, who had large adrenal glands and female internal organs. Important aspects of discoverinh adrenal hormones and diseased include congenital adrenal hyperplasia below:[1][2][3][4]
- In 1563, Eustachius described the adrenals and then published by Lancisi in 1714.
- In 1849, Thomas Addison, found on a bronzed appearance associated with the adrenal glands called melasma suprarenale while searching for the cause of pernicious anemia.
- In 1855, Thomas Addison defined the clinical features and autopsy findings in 11 cases of diseases of the suprarenal capsules, and half of them were tuberculous in origin.
- In 1856, In adrenalectomy experiments, Brown-Séquard found that the adrenal glands are nessesary for life.
- In 1896, William Osler prepared an oral glycerin extract derived from pig adrenals and showed that it had clinical benefit in patients with Addison disease.
- In 1905, Bulloch and Sequeira described patients with congenital adrenal hyperplasia.
- In 1936, Selye described the concept of stress and its effect on pituitary-adrenal function.
- In 1937-1952, Kendall and Reichstein, defined the Isolation and structural characterization of adrenocortical hormones.
- In 1943, Li and colleagues isolated adrenocorticotropic hormone from sheep pituitary.
- In 1950, Hench, Kendall, and Reichstein shared the Nobel Prize in Medicine for describing the anti-inflammatory effects of cortisone in patients with rheumatoid arthritis
- In 1956, Conn described primary aldosteronism.
- In 1981, Vale defined characterization and synthesis of corticotropin-releasing hormone.
- From 1980-present called the molecular era:
- Cloning and functional characterization of steroid receptors
- Steroidogenic enzymes
- Adrenal transcription factors are reported
- Molecular basis for human adrenal diseases.
References
- ↑ 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. doi:10.1210/en.2014-1879. PMID 25635623.
- ↑ Melmed, Shlomo (2016). Williams textbook of endocrinology. Philadelphia, PA: Elsevier. ISBN 978-0323297387.=
- ↑ 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.
- ↑ Biglieri EG, Herron MA, Brust N (1966). "17-hydroxylation deficiency in man". J. Clin. Invest. 45 (12): 1946–54. doi:10.1172/JCI105499. PMC 292880. PMID 4288776.