17 alpha-hydroxylase deficiency medical therapy: 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==
The mainstay of therapy for congenital adrenal hyperplasia due to 17 alpha-hydroxylase is glucocorticoid therapy.
The mainstay of therapy for 17 alpha-hydroxylase deficiency is [[glucocorticoid]] therapy. [[Spironolactone]] and [[Estrogen-replacement therapy|estrogen]] may also be used.
 
==Medical Therapy==
==Medical Therapy==
* Hypertension and mineralocorticoid excess is treated with [[glucocorticoid]] replacement, as in other forms of CAH.
The goal of therapy is: <ref name="pmid28576284">{{cite journal |vauthors=El-Maouche D, Arlt W, Merke DP |title=Congenital adrenal hyperplasia |journal=Lancet |volume= |issue= |pages= |year=2017 |pmid=28576284 |doi=10.1016/S0140-6736(17)31431-9 |url=}}</ref><ref name="pmid24622419">{{cite journal |vauthors=Merke DP, Poppas DP |title=Management of adolescents with congenital adrenal hyperplasia |journal=Lancet Diabetes Endocrinol |volume=1 |issue=4 |pages=341–52 |year=2013 |pmid=24622419 |pmc=4163910 |doi=10.1016/S2213-8587(13)70138-4 |url=}}</ref><ref name="pmid3060026">{{cite journal| author=Hughes IA| title=Management of congenital adrenal hyperplasia. | journal=Arch Dis Child | year= 1988 | volume= 63 | issue= 11 | pages= 1399-404 | pmid=3060026 | doi= | pmc=1779155 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3060026  }}</ref>
* Hydrocortisone is the drug of choice
 
* Most genetic females with both forms of the deficiency will need replacement estrogen to induce puberty. Most will also need periodic progestin to regularize menses. Fertility is usually reduced because egg maturation and ovulation is poorly supported by the reduced intra-ovarian steroid production.
* Correct the effects of [[mineralocorticoid excess]]
* The most difficult management decisions are posed by the more ambiguous genetic (XY) males. Most who are severely undervirilized, looking more female than male, are raised as females with surgical removal of the nonfunctional testes. If raised as males, a brief course of testosterone can be given in infancy to induce growth of the penis. Surgery may be able to repair the hypospadias. The testes should be salvaged by [[orchiopexy]] if possible. Testosterone must be replaced in order for puberty to occur and continued throughout adult life.
* Prevent [[glucocorticoid]] deficiency
* Restore desired secondary [[sexual characteristics]]
 
*Treatment for 17 alpha-hydroxylase deficiency is by the use of [[glucocorticoids]] such as:
** Preferred regimen (1): [[Hydrocortisone]] 10 to 25 mg/m2 body surface area/day PO.  
** Preferred regimen (2): [[Prednisolone]] 0.1 mg/kg/day PO.
** Preferred regimen (3): [[Dexamethasone]] up to 0.5 mg/day PO.
 
*As all the patients are clinically female, [[spironolactone]] is the drug of choice to block the [[mineralocorticoid receptor]]:
**  Preferred regimen (1): [[Spironolactone]] 25 to 200 mg/day PO.
 
*Treatment should be monitored by:
**[[Blood pressure]]
**[[Deoxycorticosterone]] levels
**[[Electrolyte|Electrolytes]]
 
*At the time of expected [[puberty]], [[Estrogen replacement therapy|estrogen replacement]] should be started.
 
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
[[Category:Disease]]
[[Category:Pediatrics]]
[[Category:Endocrinology]]
[[Category:Genetic disorders]]
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Latest revision as of 12:24, 23 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]

Overview

The mainstay of therapy for 17 alpha-hydroxylase deficiency is glucocorticoid therapy. Spironolactone and estrogen may also be used.

Medical Therapy

The goal of therapy is: [1][2][3]

  • Treatment for 17 alpha-hydroxylase deficiency is by the use of glucocorticoids such as:

References

  1. El-Maouche D, Arlt W, Merke DP (2017). "Congenital adrenal hyperplasia". Lancet. doi:10.1016/S0140-6736(17)31431-9. PMID 28576284.
  2. Merke DP, Poppas DP (2013). "Management of adolescents with congenital adrenal hyperplasia". Lancet Diabetes Endocrinol. 1 (4): 341–52. doi:10.1016/S2213-8587(13)70138-4. PMC 4163910. PMID 24622419.
  3. Hughes IA (1988). "Management of congenital adrenal hyperplasia". Arch Dis Child. 63 (11): 1399–404. PMC 1779155. PMID 3060026.