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 in 1865. 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.
Discovery
21-hydroxylase deficiency 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 discovering adrenal hormones:[1][2][3][4][5]
- 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 1963 congenital adrenal hyperplasia is 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 1981, Vale defined characterization and synthesis of corticotropin-releasing hormone.
- From 1980-present called the molecular era; highlights in this section are:
- Cloning and functional characterization of steroid hormone receptors discovered.
- Steroidogenic enzymes described.
- Adrenal transcription factors were reported.
- Molecular basis for human adrenal diseases described.
- In 1982, International Newborn Screening Meeting recommended new born screening for congenital adrenal hyperplasia.
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.
- ↑ 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