17 alpha-hydroxylase deficiency history and symptoms: Difference between revisions

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{{Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency}}
{{17 alpha-hydroxylase deficiency}}
{{CMG}}; {{AE}} {{Ammu}}
{{CMG}}; {{AE}} {{MJ}}
 
==Overview==
==Overview==
Symptoms of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency include delayed puberty and primary amenorrhea.<ref name="w"> Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. Wikipedia (2016. https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_17_alpha-hydroxylase_deficiency  Accessed on February 4, 2016</ref>
Symptoms of 17 alpha-hydroxylase deficiency include [[delayed puberty]] and [[primary amenorrhea]].
 
==History==
==History==
* History of [[hypertension]]
* History of [[hypertension]] starting in adolescence.<ref name="pmid226795">{{cite journal |vauthors=Biglieri EG |title=Mechanisms establishing the mineralocorticoid hormone patterns in the 17 alpha-hydroxylase deficiency syndrome |journal=J. Steroid Biochem. |volume=11 |issue=1B |pages=653–7 |year=1979 |pmid=226795 |doi= |url=}}</ref>
==Symptoms==
==Symptoms==
* Delayed puberty
Symptoms of 17 alpha-hydroxylase deficiency include:<ref name="pmid2164530">{{cite journal |vauthors=Moreira AC, Leal AM, Castro M |title=Characterization of adrenocorticotropin secretion in a patient with 17 alpha-hydroxylase deficiency |journal=J. Clin. Endocrinol. Metab. |volume=71 |issue=1 |pages=86–91 |year=1990 |pmid=2164530 |doi=10.1210/jcem-71-1-86 |url=}}</ref><ref name="pmid999330">{{cite journal |vauthors=Heremans GF, Moolenaar AJ, van Gelderen HH |title=Female phenotype in a male child due to 17-alpha-hydroxylase deficiency |journal=Arch. Dis. Child. |volume=51 |issue=9 |pages=721–3 |year=1976 |pmid=999330 |pmc=1546244 |doi= |url=}}</ref><ref name="pmid226795">{{cite journal |vauthors=Biglieri EG |title=Mechanisms establishing the mineralocorticoid hormone patterns in the 17 alpha-hydroxylase deficiency syndrome |journal=J. Steroid Biochem. |volume=11 |issue=1B |pages=653–7 |year=1979 |pmid=226795 |doi= |url=}}</ref>
* Primary [[amenorrhea]]
* [[Delayed puberty]]
* Infertility
* [[amenorrhea|Primary amenorrhea]]
* Absence of [[secondary sexual characteristics]]
* Minimal [[body hair]]
 
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
[[Category:Disease]]
[[Category:Pediatrics]]
[[Category:Endocrinology]]
[[Category:Genetic disorders]]
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Latest revision as of 16:37, 7 August 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]

Overview

Symptoms of 17 alpha-hydroxylase deficiency include delayed puberty and primary amenorrhea.

History

Symptoms

Symptoms of 17 alpha-hydroxylase deficiency include:[2][3][1]

References

  1. 1.0 1.1 Biglieri EG (1979). "Mechanisms establishing the mineralocorticoid hormone patterns in the 17 alpha-hydroxylase deficiency syndrome". J. Steroid Biochem. 11 (1B): 653–7. PMID 226795.
  2. Moreira AC, Leal AM, Castro M (1990). "Characterization of adrenocorticotropin secretion in a patient with 17 alpha-hydroxylase deficiency". J. Clin. Endocrinol. Metab. 71 (1): 86–91. doi:10.1210/jcem-71-1-86. PMID 2164530.
  3. Heremans GF, Moolenaar AJ, van Gelderen HH (1976). "Female phenotype in a male child due to 17-alpha-hydroxylase deficiency". Arch. Dis. Child. 51 (9): 721–3. PMC 1546244. PMID 999330.