17 alpha-hydroxylase deficiency historical perspective: Difference between revisions
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{{ | {{17 alpha-hydroxylase deficiency}} | ||
{{CMG}}; {{AE}} {{Ammu}} | {{CMG}}; {{AE}} {{MJ}}, {{Ammu}} | ||
==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 | * [[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.<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 1965, the | * In 1963 [[congenital adrenal hyperplasia]] was categorized as several closely related disorders, each caused by different enzyme abnormalities. | ||
* In 1982, International Newborn Screening Meeting recommended congenital adrenal hyperplasia | * 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]].<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><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><ref name="pmid4288776">{{cite journal |vauthors=Biglieri EG, Herron MA, Brust N |title=17-hydroxylation deficiency in man |journal=J. Clin. Invest. |volume=45 |issue=12 |pages=1946–54 |year=1966 |pmid=4288776 |pmc=292880 |doi=10.1172/JCI105499 |url=}}</ref> | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Latest revision as of 12:44, 3 October 2017
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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.