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. He found large adrenal glands in a male autopsy, who had female internal organs.
Important aspects of discovering adrenal hormones:[1][2][3][4][5]
- In 1563, Eustachius described the adrenal glands and then published by Lancisi in 1714.
- In 1849, Thomas Addison, while searching for the cause of pernicious anemia, found a bronzed appearance associated with the adrenal glands. Then in 1855, Thomas Addison described clinical findings in 11 cases of adrenal disorders.
- In 1856, In adrenalectomy experiments, Brown-Séquard found that the adrenal glands are necessary for life.
- In 1896, William Osler prepared an extraction 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, described the structural basics 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 disorders, caused by different enzyme deficiencies.
- In 1965, the diagnostic approach of congenital adrenal hyperplasia was established by adrenal steroids level measuring in the amniotic fluid.
- 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 adrenal diseases described.
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