17 alpha-hydroxylase deficiency overview: Difference between revisions
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==Overview== | ==Overview== | ||
Congenital adrenal hyperplasia due to 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> | |||
==Discovery== | ==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.<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 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.<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 due to 17 alpha-hydroxylase deficiency was first reported by Dr. Edward G. Biglieri, an American endocrinologist, in 1963-1966 following 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> | * Congenital adrenal hyperplasia due to 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 1965, the detection of congenital adrenal hyperplasia by measuring the elevation of adrenal hormones in amniotic fluid. | * In 1965, the detection of congenital adrenal hyperplasia by measuring the elevation of adrenal hormones in amniotic fluid. |
Revision as of 15:35, 4 February 2016
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
Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency was first reported by Dr. Edward G. Biglieri, an American endocrinologist, in 1963-1966 following publication of a case report.[1]
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.[2]
- Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency was first reported by Dr. Edward G. Biglieri, an American endocrinologist, in 1963-1966 following publication of a case report.[1]
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
- ↑ 1.0 1.1 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