17 alpha-hydroxylase deficiency overview
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Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency Microchapters |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]
Overview
Discovery
- Congenital adrenal hyperplasia was first discovered by Dr. Luigi DeCrecchio, an Italian anatomist, in 1865 following a case report of a female patient with enlarged adrenal glands, no testes but male appearing genitals and female reproductive system internally.[1]
- Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency was first reported by Dr. Edward G. Biglieri, an American endocrinologist, in 1963-1966 following a case report.[2]
Landmark Events in the Development of Treatment Strategies
- In 1965, the detection of congenital adrenal hyperplasia by measuring the elevation of adrenal hormones in amniotic fluid.
- In 1982, International Newborn Screening Meeting recommended congenital adrenal hyperplasia as a disease which meets the criteria to be included in newborn screening systems.
- In 1989, Texas included congenital adrenal hyperplasia in its Newborn Screening Program.
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
- ↑ 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.