Congenital adrenal hyperplasia historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
Historical Perspective
Congenital adrenal hyperplasia first time seen in a man at autopsy who had big adrenal glands and female internal organs.[1][2][3][4]
In 1563, Eustachius describes the adrenals (published by Lancisi in 1714). In 1849, Thomas Addison, while searching for the cause of pernicious anemia, stumbles on a bronzed appearance associated with the adrenal glands called melasma suprarenale In 1855, Thomas Addison describes the clinical features and autopsy findings in 11 cases of diseases of the suprarenal capsules, at least 6 of which were tuberculous in origin. In 1856, In adrenalectomy experiments, Brown-Séquard demonstrates that the adrenal glands are essential for life. In 1896, William Osler prepares an oral glycerin extract derived from pig adrenals and demonstrates that it has clinical benefit in patients with Addison disease. In 1905, Bulloch and Sequeira describe patients with congenital adrenal hyperplasia. In 1929, Liquid extracts of cortical tissue are used to keep adrenalectomized cats alive indefinitely (Swingle and Pfiffner); subsequently, this extract was used successfully to treat a patient with Addison disease (Rowntree and Greene). In 1932, Harvey Cushing associates the polyglandular syndrome of pituitary basophilism, which he first described in 1912, with hyperactivity of the pituitary-adrenal glands. In 1936,The concept of stress and its effect on pituitary-adrenal function are described by Selye. In 1937-1952,Isolation and structural characterization of adrenocortical hormones are reported by Kendall and Reichstein. In 1943, Li and colleagues isolate pure adrenocorticotropic hormone from sheep pituitary.
In 1950, Hench, Kendall, and Reichstein share the Nobel Prize in Medicine for describing the anti-inflammatory effects of cortisone in patients with rheumatoid arthritis
In 1953,Isolation and analysis of the structure of aldosterone are reported by Simpson and Tait. In 1956, Conn describes primary aldosteronism. In 1981, Characterization and synthesis of corticotropin-releasing hormone are reported by Vale.
From 1980-present the molecular era: cloning and functional characterization of steroid receptors, steroidogenic enzymes, and adrenal transcription factors are reported, and the molecular basis for human adrenal diseases is defined.
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.