Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
17 alpha-hydroxylase deficiency historical perspective
Introduction
Overview
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
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
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
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.
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]