17 alpha-hydroxylase deficiency historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2], Ammu Susheela, M.D. [3]
Overview
17 alpha-hydroxylase deficiency was first reported by Dr. Edward G. Biglieri, an American endocrinologist, in 1963-1966 following publication of a case report.
Discovery
- Congenital adrenal hyperplasia was first discovered by Dr. Luigi DeCrecchio, an Italian pathologist, in 1865 following a case report of a patient with enlarged adrenal glands, male external genitalia, absence of testicles, and female internal reproductive organs.
- In 1963 congenital adrenal hyperplasia is categorized as several closely related disorders, each caused by different enzyme abnormalities.[1]
- 17 alpha-hydroxylase deficiency was first reported by Dr. Edward G. Biglieri, an American endocrinologist, in 1963-1966 following publication of a case report.[2]
Landmark Events in the Development of Treatment Strategies
- In 1963 congenital adrenal hyperplasia was 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 1966, the hallmark symptoms of 17 alpha-hydroxylase deficiency (17OHD) was first described.
- In 1982, International Newborn Screening Meeting recommended new born screening for congenital adrenal hyperplasia.[3][2][4]
References
- ↑ 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
- ↑ 2.0 2.1 Biglieri, E G; Herron, M A; Brust, N (1966). "17-hydroxylation deficiency in man". Journal of Clinical Investigation. 45 (12): 1946–1954. doi:10.1172/JCI105499. ISSN 0021-9738.
- ↑ 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
- ↑ 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.