17 alpha-hydroxylase deficiency historical perspective: Difference between revisions
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==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. | 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 female patient with enlarged adrenal glands, male external genitalia, absence of testicles, and female internal reproductive organs.<ref> 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</ref> | * Congenital adrenal hyperplasia was first discovered by Dr. Luigi DeCrecchio, an Italian pathologist, in 1865 following a case report of a female 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.<ref>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</ref> | ||
* 17 alpha-hydroxylase deficiency was first reported by Dr. Edward G. Biglieri, an American endocrinologist, in 1963-1966 following publication of a case report.<ref name="BiglieriHerron1966">{{cite journal|last1=Biglieri|first1=E G|last2=Herron|first2=M A|last3=Brust|first3=N|title=17-hydroxylation deficiency in man.|journal=Journal of Clinical Investigation|volume=45|issue=12|year=1966|pages=1946–1954|issn=0021-9738|doi=10.1172/JCI105499}}</ref> | |||
==Landmark Events in the Development of Treatment Strategies== | ==Landmark Events in the Development of Treatment Strategies== | ||
* In 1963 congenital adrenal hyperplasia is 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 1965, the diagnostic approach of congenital adrenal hyperplasia was established by measuring the levels of adrenal hormones in the amniotic fluid. | ||
* In 1982, International Newborn Screening Meeting recommended new born screening for congenital adrenal hyperplasia. | * In 1982, International Newborn Screening Meeting recommended new born screening for congenital adrenal hyperplasia. | ||
==References== | ==References== |
Revision as of 18:14, 3 August 2017
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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], Mehrian Jafarizade, 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 female 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 is 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 1982, International Newborn Screening Meeting recommended new born screening for congenital adrenal hyperplasia.
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.