21-hydroxylase deficiency medical therapy: Difference between revisions

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{{Congenital adrenal hyperplasia due to 21-hydroxylase deficiency}}
{{21-hydroxylase deficiency}}
 
{{CMG}}; {{AE}}{{MJ}}
{{CMG}} {{AE}} {{AAM}}


==Overview==
==Overview==
The mainstay of therapy for congenital adrenal hyperplasia due to 21-hydroxylase deficiency is [[glucocorticoid]] replacement.
Medical therapy for classic type of 21-hydroxylase deficiency includes maternal administration of [[dexamethasone]] for [[genetically]] diagnosed intranatal patients. [[Hydrocortisone]] and [[fludrocortisone]] is given in children and [[Adult|adults]]. Treatment for non-classic type of 21 hydroxylase deficiency in children includes [[hydrocortisone]] up to [[puberty]] and in women in reproductive age, [[oral contraceptive pills]] are given for regulation of [[menstrual cycle]]. Men with non-classic type of 21 hydroxylase deficiency are [[asymptomatic]] and do not need any treatment.


==Medical Therapy==
==Medical Therapy for classic type of 21 hydroxylase deficiency==
Medical therapy for 21-hydroxylase deficiency in [[prenatal]] period, [[neonates]], children and [[Adult|adults]], is as below:<ref name="pmid15964450">{{cite journal |vauthors=Merke DP, Bornstein SR |title=Congenital adrenal hyperplasia |journal=Lancet |volume=365 |issue=9477 |pages=2125–36 |year=2005 |pmid=15964450 |doi=10.1016/S0140-6736(05)66736-0 |url=}}</ref><ref name="pmid12213842">{{cite journal |vauthors= |title=Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology |journal=J. Clin. Endocrinol. Metab. |volume=87 |issue=9 |pages=4048–53 |year=2002 |pmid=12213842 |doi=10.1210/jc.2002-020611 |url=}}</ref><ref name="pmid11344938">{{cite journal |vauthors=Speiser PW |title=Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency |journal=Endocrinol. Metab. Clin. North Am. |volume=30 |issue=1 |pages=31–59, vi |year=2001 |pmid=11344938 |doi= |url=}}</ref><ref name="pmid20823466">{{cite journal| author=Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP et al.| title=Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. | journal=J Clin Endocrinol Metab | year= 2010 | volume= 95 | issue= 9 | pages= 4133-60 | pmid=20823466 | doi=10.1210/jc.2009-2631 | pmc=2936060 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20823466  }}</ref><ref name="pmid2 22237438">{{cite journal| author=Bose KS, Sarma RH| title=Delineation of the intimate details of the backbone conformation of pyridine nucleotide coenzymes in aqueous solution. | journal=Biochem Biophys Res Commun | year= 1975 | volume= 66 | issue= 4 | pages= 1173-9 | pmid=2 22237438 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2  }}</ref>


==Early-onset: Severe 21-hydroxylase deficient congenital adrenal hyperplasia==
=== 1. Prenatal treatment===
====Salt-wasting crisis in infancy====
In the [[prenatal]] period [[virilization]] of female [[fetus]] begins early; therefore, early treatment is required as follows:
*[[Hydrocortisone]] and intravenous [[saline]] and [[dextrose]] are mainstay treatment of adrenal crisis.
* If classic [[CYP21A2]] [[gene]] [[mutations]] exist in parents, [[maternal]] administration of [[dexamethasone]] should be prescribed.
*This treatment quickly restores [[blood volume]], [[blood pressure]], and body sodium content, and reverses the [[hyperkalemia]].
** Preferred regimen: [[Dexamethasone]] 20 micrograms/kg q24h in 2 or 3 fractioned doses [[Orally ingested|orally]].
*With appropriate treatment, most infants are out of danger within 24 hours.<ref name="Wikipeadia"> https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency</ref>
*** [[Dexamethasone]] crosses the [[placenta]] into the [[fetal circulation]] and prevents [[ambiguous genitalia]] in female [[fetus]].
*** This treatment should be started before 9 weeks of [[pregnancy]] age; if treatment cannot be started by 9 weeks, it should not be given at all.
*** If [[Cell-free system|cell-free]] [[fetal]] [[DNA testing]] reveals the gender to be male, treatment should be discontinued.
*** Approximately 85% of managed cases appear quite normal after [[delivery]].
*** [[Side effects]] of [[prenatal]] [[dexamethasone]] are:<ref name="pmid208234662">{{cite journal| author=Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP et al.| title=Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. | journal=J Clin Endocrinol Metab | year= 2010 | volume= 95 | issue= 9 | pages= 4133-60 | pmid=20823466 | doi=10.1210/jc.2009-2631 | pmc=2936060 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20823466  }}</ref><ref name="pmid9814461">{{cite journal| author=Lajic S, Wedell A, Bui TH, Ritzén EM, Holst M| title=Long-term somatic follow-up of prenatally treated children with congenital adrenal hyperplasia. | journal=J Clin Endocrinol Metab | year= 1998 | volume= 83 | issue= 11 | pages= 3872-80 | pmid=9814461 | doi=10.1210/jcem.83.11.5233 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9814461  }}</ref><ref name="pmid18060943">{{cite journal| author=Carmichael SL, Shaw GM, Ma C, Werler MM, Rasmussen SA, Lammer EJ et al.| title=Maternal corticosteroid use and orofacial clefts. | journal=Am J Obstet Gynecol | year= 2007 | volume= 197 | issue= 6 | pages= 585.e1-7; discussion 683-4, e1-7 | pmid=18060943 | doi=10.1016/j.ajog.2007.05.046 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18060943  }}</ref><ref name="pmid27482827">{{cite journal| author=Wallensteen L, Zimmermann M, Thomsen Sandberg M, Gezelius A, Nordenström A, Hirvikoski T et al.| title=Sex-Dimorphic Effects of Prenatal Treatment With Dexamethasone. | journal=J Clin Endocrinol Metab | year= 2016 | volume= 101 | issue= 10 | pages= 3838-3846 | pmid=27482827 | doi=10.1210/jc.2016-1543 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27482827  }}</ref><ref name="pmid24278432">{{cite journal| author=Khalife N, Glover V, Taanila A, Ebeling H, Järvelin MR, Rodriguez A| title=Prenatal glucocorticoid treatment and later mental health in children and adolescents. | journal=PLoS One | year= 2013 | volume= 8 | issue= 11 | pages= e81394 | pmid=24278432 | doi=10.1371/journal.pone.0081394 | pmc=3838350 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24278432  }}</ref>
**** [[Postnatal]] [[failure to thrive]]
**** [[Psychomotor retardation|Psychomotor]] [[developmental delay]]
****Increased risk of [[cleft lip and palate]]
****Increased risk for [[Psychiatric disorders|psychiatric disturbances]] and [[ADHD]]


====Long-term management of congenital adrenal hyperplasia====
=== 2. Neonatal treatment ===
Management of infants and children with congenital adrenal hyperplasia is complex and warrants long term care in a [[pediatric endocrinology|pediatric endocrine clinic]]. After the diagnosis is confirmed, and any salt-wasting crisis averted or reversed, major management issues include:
'''2.1 Medical therapy for 21-hydroxylase deficiency in the neonates is as follows:'''<ref name="pmid20823466">{{cite journal| author=Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP et al.| title=Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. | journal=J Clin Endocrinol Metab | year= 2010 | volume= 95 | issue= 9 | pages= 4133-60 | pmid=20823466 | doi=10.1210/jc.2009-2631 | pmc=2936060 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20823466  }}</ref>
*Initiating and monitoring hormone replacement
* Preferred regimen: [[Hydrocortisone]] 20 to 30 mg/m<sup>2</sup>  q24h divided in three doses [[Orally ingested|PO]] '''<u>AND</u>''' [[Fludrocortisone]] 100 mcg q12h [[Orally ingested|PO]] '''<u>AND</u>''' [[sodium chloride]] one gram or 4 mEq/kg q24h divided in several doses [[Orally ingested|PO.]]
*Stress coverage, crisis prevention, parental education
** The minimization of [[steroid]] doses should be considered to avoid [[steroid]] [[complications]] in [[infants|infants.]] 
*Reconstructive surgery
** Growth suppression and shorter height in adulthood are the [[complications]] of using high dose [[steroids]] which occurs in [[neonates]].
*Optimizing growth
'''2.2 Ambiguous genitalia:''' 
*Optimizing androgen suppression and fertility in women with congenital adrenal hyperplasia
* [[Ambiguous genitalia]] should be managed immediately. 
=====Hormone replacement=====
* [[Infants]] with [[ambiguous genitalia]] and non palpable [[gonads]] should be considered to have [[congenital adrenal hyperplasia]] and [[empirical treatment]] should be start early after obtaining [[blood]] sample for [[17-hydroxyprogesterone]].
* Initial [[empiric therapy]] should contains doses of [[glucocorticoid]] and [[mineralocorticoid]] and [[sodium chloride]] supplementation.
** Preferred regimen: [[Hydrocortisone]] is 20 to 30 mg/m<sup>2</sup> q24h divided in three doses [[Orally ingested|PO]] '''<u>AND</u>''' [[Fludrocortisone]] 100 mcg q12h [[Orally ingested|PO]] '''<u>AND</u>''' [[sodium chloride]] one gram or 4 mEq/kg q24h divided in several doses [[Route of administration|PO]].  
'''2.3 Adrenal crisis:'''
* Preferred regimen: [[Normal saline]] 0.9 percent, 20 mL/kg [[intravenous]] [[Bolus (medicine)|bolus]] '''<u>AND</u>''' [[dextrose]] 10 percent 2 to 4 mL/kg [[intravenous]] [[Bolus (medicine)|bolus]] (if there is significant [[hypoglycemia]]) '''<u>AND</u>''' [[hydrocortisone]] 50 to 100 mg/m<sup>2</sup> [[intravenous]] [[Bolus (medicine)|bolus]], '''<u>THEN</u>''' continue [[hydrocortisone]] alone 50 to 100 mg/m<sup>2</sup> [[Intravenous therapy|IV]] per day divided into four times per 24 hours.
** The [[blood]] sample should be obtained for [[steroid hormone]] levels before giving [[hydrocortisone]].  
** [[Hyperkalemia]] should be corrected on the base of its level and [[complications]].


*[[Glucocorticoid]]s provide a reliable substitute for [[cortisol]] and reduce [[ACTH]] level, reducing ACTH also reduces the stimulus for continued hyperplasia and overproduction of androgens in both sexes.
===3. Management in children===
:*[[Hydrocortisone]] or liquid [[prednisolone]] is preferred in infancy and childhood.
* Preferred regimen: [[Hydrocortisone]] ([[cortisol]]) in a dose of 10 to 15 mg/m<sup>2</sup> [[body surface area]]/day [[Orally ingested|PO]] '''<u>AND</u>''' [[fludrocortisone]] in a dose of 50 to 200 mcg per day (0.05 to 0.20 mg/day) [[Orally ingested|PO]].
:*[[Prednisone]] or [[dexamethasone]] are often more convenient for adults.
** [[Mineralocorticoid]] replacement should be started in all 21-hydroxylase deficient patients, and often may be tapered after six months of age.  
:*Dose is typically started at the low end of physiologic replacement (6-12 mg/m<sup>2</sup>) but is adjusted throughout childhood to prevent both growth suppression from too much and androgen escape from too little glucocorticoid.
'''3.1 Response to therapy can be monitored by checking the following parameters:'''
:*Serum levels of [[17-hydroxyprogesterone|17OHP]], [[testosterone]], [[androstenedione]], and other adrenal steroids are followed for additional information, but may not be entirely normalized even with optimal treatment.
* Serum [[17-hydroxyprogesterone]]
* [[Androstenedione]]
* [[Plasma renin activity]] or direct [[renin]]
* Height measurements


*[[Mineralocorticoid]]s are replaced in all infants with salt-wasting and in most patients with elevated [[renin]] levels.
===4. Management in adults===
:*[[Fludrocortisone]] is the only pharmaceutically available mineralocorticoid, doses of (0.05 to 2 mg) daily is recommended.
'''21 hydroxylase deficiency should be managed as follows:'''<ref name="pmid20823466">{{cite journal| author=Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP et al.| title=Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. | journal=J Clin Endocrinol Metab | year= 2010 | volume= 95 | issue= 9 | pages= 4133-60 | pmid=20823466 | doi=10.1210/jc.2009-2631 | pmc=2936060 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20823466  }}</ref><ref name="pmid2843311">{{cite journal| author=Horrocks PM, London DR| title=Effects of long term dexamethasone treatment in adult patients with congenital adrenal hyperplasia. | journal=Clin Endocrinol (Oxf) | year= 1987 | volume= 27 | issue= 6 | pages= 635-42 | pmid=2843311 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2843311  }}</ref><ref name="pmid27623069">{{cite journal| author=Stewart PM, Biller BM, Marelli C, Gunnarsson C, Ryan MP, Johannsson G| title=Exploring Inpatient Hospitalizations and Morbidity in Patients With Adrenal Insufficiency. | journal=J Clin Endocrinol Metab | year= 2016 | volume= 101 | issue= 12 | pages= 4843-4850 | pmid=27623069 | doi=10.1210/jc.2016-2221 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27623069  }}</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><ref name="pmid11344938">{{cite journal |vauthors=Speiser PW |title=Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency |journal=Endocrinol. Metab. Clin. North Am. |volume=30 |issue=1 |pages=31–59, vi |year=2001 |pmid=11344938 |doi= |url=}}</ref><ref name="pmid9829228">{{cite journal |vauthors=Lopes LA, Dubuis JM, Vallotton MB, Sizonenko PC |title=Should we monitor more closely the dosage of 9 alpha-fluorohydrocortisone in salt-losing congenital adrenal hyperplasia? |journal=J. Pediatr. Endocrinol. Metab. |volume=11 |issue=6 |pages=733–7 |year=1998 |pmid=9829228 |doi= |url=}}</ref><ref name="pmid7015786">{{cite journal |vauthors=Jansen M, Wit JM, van den Brande JL |title=Reinstitution of mineralocorticoid therapy in congenital adrenal hyperplasia. Effects on control and growth |journal=Acta Paediatr Scand |volume=70 |issue=2 |pages=229–33 |year=1981 |pmid=7015786 |doi= |url=}}</ref>
:*[[Electrolyte]]s, renin, and [[blood pressure]] levels are followed to optimize the dose.<ref name="Wikipeadia"> https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency</ref>


=====Optimizing growth in congenital adrenal hyperplasia=====
'''4.1 Treatment goals'''
*[[Glucocorticoids]] are essential for health and dosing is always a matter of approximation. In even mildly excessive dose, glucocorticoids can slow growth.
* Provide proper dosing of [[glucocorticoid]] and [[mineralocorticoid]].
*Adrenal androgens are readily converted to [[estradiol]], which accelerates [[bone age|bone maturation]] and can lead to early epiphyseal closure.
* Decrease secretion of [[cosyntropin]]; therefore decrease [[adrenal]] overstimulation and [[androgen]] production.
*Rate of growth is assessed by checking the [[bone age]] every year or two through periodic measurement of [[17OHP]] and [[testosterone]] levels.
'''4.2 Glucocorticoids and mineralocorticoid replacement''' 
*[[Gonadotropin-releasing hormone]] agonists such as [[leuprolide]] are used to slow bone maturation and suppress precocious puberty.
* Preferred regimen: [[Hydrocortisone]] 15-30 mg q24h divided into three doses [[Orally ingested|PO]] '''<u>AND</u>''' [[Fludrocortisone Acetate|9-alpha-fludrocortisone acetate]] 0.1 to 0.2 mg q24h [[Orally ingested|PO]].
*[[Antiandrogen]] such as [[flutamide]] reduce the conversion of testosterone to estradiol.
* Alternative regimen (1): [[Dexamethasone]] 0.75 mg q24h [[Orally ingested|PO]] '''<u>AND</u>''' [[Fludrocortisone Acetate|9-alpha-fludrocortisone acetate]] 0.1 to 0.2 mg q24h [[Route of administration|PO]].
*[[Aromatase inhibitor]] such as [[testolactone]] also block conversion of testosterone to estradiol.
* Alternative regimen (2): [[Prednisone]] 5mg q24h [[Orally ingested|PO]] '''<u>AND</u>''' [[Fludrocortisone Acetate|9-alpha-fludrocortisone acetate]] 0.1 to 0.2 mg q24h [[Orally ingested|PO]].
*[[Bilateral adrenalectomy]] rarely used to remove the androgen sources.
'''4.3 Considerations'''
*[[Growth hormone treatment]] is used to enhance growth.<ref name="Wikipeadia"> https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency</ref>
*[[Glucocorticoids]] reduce the excess production of [[adrenal]] [[androgens]] and reduce the excessive secretion of both [[corticotropin-releasing hormone]] and [[ACTH]].
* Stress dosing: In patients with 21-hydroxylase deficiency and serious [[illness]], [[glucocorticoids]] stress dosing is necessary.
* [[Dexamethasone]] is very potent and long-acting [[glucocorticoid]] that effectively suppresses [[ACTH]] secretion but almost always causes the development of [[cushingoid appearance]] with chronic use.
* The proper dose of [[Fludrocortisone Acetate|fludrocortisone acetate]] should be used to restore normal [[serum]] [[potassium]] concentrations and [[plasma renin activity]].
'''4.4 Therapy consideration in women'''
* Lowering blood [[androgen]] levels with [[glucocorticoids]], can helps women to control annoying [[Cosmetics|cosmetic]] [[symptoms]] such as [[acne]] and [[hirsutism]].
* In  21-hydroxylase deficient patients [[oral contraceptive pills]] in combination with [[glucocorticoids]] can be used to regulate the [[menstrual cycle]] and induction of [[ovulation]].


==Childhood onset (simple virilizing) congenital adrenal hyperplasia==
== Medical Therapy for non-classic type of 21 hydroxylase deficiency ==
Medical therapy for non-classic type of 21 hydroxylase deficiency is as following:<ref name="pmid2137832">{{cite journal |vauthors=Spritzer P, Billaud L, Thalabard JC, Birman P, Mowszowicz I, Raux-Demay MC, Clair F, Kuttenn F, Mauvais-Jarvis P |title=Cyproterone acetate versus hydrocortisone treatment in late-onset adrenal hyperplasia |journal=J. Clin. Endocrinol. Metab. |volume=70 |issue=3 |pages=642–6 |year=1990 |pmid=2137832 |doi=10.1210/jcem-70-3-642 |url=}}</ref><ref name="pmid20823466">{{cite journal |vauthors=Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC |title=Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline |journal=J. Clin. Endocrinol. Metab. |volume=95 |issue=9 |pages=4133–60 |year=2010 |pmid=20823466 |pmc=2936060 |doi=10.1210/jc.2009-2631 |url=}}</ref><ref name="pmid2142968">{{cite journal |vauthors=Frank-Raue K, Junga G, Raue F, Vecsei P, Ziegler R |title=[Therapy of hirsutism in females with adrenal enzyme defects of steroid hormone biosynthesis: comparison of dexamethasone with cyproterone acetate] |language=German |journal=Klin. Wochenschr. |volume=68 |issue=12 |pages=597–601 |year=1990 |pmid=2142968 |doi= |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>
=== 1. Children ===
* Preferred regimen: [[Hydrocortisone]] 10 to 15 mg/m<sup>2</sup> divided into three doses q24h.
** Treatment should be continued until [[puberty]].
**In [[symptomatic]] girls after [[puberty]], other treatment options such as [[oral contraceptive pills]] may be used in order to avoid [[glucocorticoids]].


The mainstay of treatment is:<ref name="Wikipeadia"> https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency</ref>
=== 2. Adults ===
*Suppression of adrenal [[testosterone]] production by a [[glucocorticoid]] such as [[hydrocortisone]].
* Female patients may need [[oral contraceptive pills]] for regulation of [[menstrual cycle]]; [[oral contraceptive pills]] are preferred other than [[glucocorticoids]] in this condition.
*[[Mineralocorticoid]] in cases where the plasma [[renin]] activity is high.
* Female patients with [[infertility]] and [[Anovulatory cycle|anovulatory cycles]] who desire [[Conceive a child|conceive]], [[glucocorticoids]] with above dosage are the initial choice for [[ovulation]] induction.
*Suppression of central [[precocious puberty]] by [[leuprolide]].
*[[Aromatase]] inhibitior to slow bone maturation by reducing the amount of testosterone converted to [[estradiol]], [[estrogen]] blockers are also used for the same purpose.
*Stress [[steroid]] coverage for significant illness or injury.


==Late onset (nonclassical) congenital adrenal hyperplasia==
* Male patient with non-classic 21-hydroxylase deficiency are [[asymptomatic]] and they do not need treatment.
*Combination of very low dose of glucocorticoid (to reduce adrenal androgen production) and androgen blockers (to induce ovulation) are used in late onset congenital adrenal hyperplasia.


==References==
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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

Medical therapy for classic type of 21-hydroxylase deficiency includes maternal administration of dexamethasone for genetically diagnosed intranatal patients. Hydrocortisone and fludrocortisone is given in children and adults. Treatment for non-classic type of 21 hydroxylase deficiency in children includes hydrocortisone up to puberty and in women in reproductive age, oral contraceptive pills are given for regulation of menstrual cycle. Men with non-classic type of 21 hydroxylase deficiency are asymptomatic and do not need any treatment.

Medical Therapy for classic type of 21 hydroxylase deficiency

Medical therapy for 21-hydroxylase deficiency in prenatal period, neonates, children and adults, is as below:[1][2][3][4][5]

1. Prenatal treatment

In the prenatal period virilization of female fetus begins early; therefore, early treatment is required as follows:

2. Neonatal treatment

2.1 Medical therapy for 21-hydroxylase deficiency in the neonates is as follows:[4]

2.2 Ambiguous genitalia: 

2.3 Adrenal crisis:

3. Management in children

3.1 Response to therapy can be monitored by checking the following parameters:

4. Management in adults

21 hydroxylase deficiency should be managed as follows:[4][11][12][13][3][14][15]

4.1 Treatment goals

4.2 Glucocorticoids and mineralocorticoid replacement 

4.3 Considerations

4.4 Therapy consideration in women

Medical Therapy for non-classic type of 21 hydroxylase deficiency

Medical therapy for non-classic type of 21 hydroxylase deficiency is as following:[16][4][17][18]

1. Children

2. Adults

  • Male patient with non-classic 21-hydroxylase deficiency are asymptomatic and they do not need treatment.

References

  1. ↑ Merke DP, Bornstein SR (2005). "Congenital adrenal hyperplasia". Lancet. 365 (9477): 2125–36. doi:10.1016/S0140-6736(05)66736-0. PMID 15964450.
  2. ↑ "Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology". J. Clin. Endocrinol. Metab. 87 (9): 4048–53. 2002. doi:10.1210/jc.2002-020611. PMID 12213842.
  3. ↑ 3.0 3.1 Speiser PW (2001). "Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency". Endocrinol. Metab. Clin. North Am. 30 (1): 31–59, vi. PMID 11344938.
  4. ↑ 4.0 4.1 4.2 4.3 Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP; et al. (2010). "Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline". J Clin Endocrinol Metab. 95 (9): 4133–60. doi:10.1210/jc.2009-2631. PMC 2936060. PMID 20823466.
  5. ↑ Bose KS, Sarma RH (1975). "Delineation of the intimate details of the backbone conformation of pyridine nucleotide coenzymes in aqueous solution". Biochem Biophys Res Commun. 66 (4): 1173–9. PMID 22237438 2 22237438 Check |pmid= value (help).
  6. ↑ Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP; et al. (2010). "Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline". J Clin Endocrinol Metab. 95 (9): 4133–60. doi:10.1210/jc.2009-2631. PMC 2936060. PMID 20823466.
  7. ↑ Lajic S, Wedell A, Bui TH, Ritzén EM, Holst M (1998). "Long-term somatic follow-up of prenatally treated children with congenital adrenal hyperplasia". J Clin Endocrinol Metab. 83 (11): 3872–80. doi:10.1210/jcem.83.11.5233. PMID 9814461.
  8. ↑ Carmichael SL, Shaw GM, Ma C, Werler MM, Rasmussen SA, Lammer EJ; et al. (2007). "Maternal corticosteroid use and orofacial clefts". Am J Obstet Gynecol. 197 (6): 585.e1–7, discussion 683-4, e1–7. doi:10.1016/j.ajog.2007.05.046. PMID 18060943.
  9. ↑ Wallensteen L, Zimmermann M, Thomsen Sandberg M, Gezelius A, Nordenström A, Hirvikoski T; et al. (2016). "Sex-Dimorphic Effects of Prenatal Treatment With Dexamethasone". J Clin Endocrinol Metab. 101 (10): 3838–3846. doi:10.1210/jc.2016-1543. PMID 27482827.
  10. ↑ Khalife N, Glover V, Taanila A, Ebeling H, Järvelin MR, Rodriguez A (2013). "Prenatal glucocorticoid treatment and later mental health in children and adolescents". PLoS One. 8 (11): e81394. doi:10.1371/journal.pone.0081394. PMC 3838350. PMID 24278432.
  11. ↑ Horrocks PM, London DR (1987). "Effects of long term dexamethasone treatment in adult patients with congenital adrenal hyperplasia". Clin Endocrinol (Oxf). 27 (6): 635–42. PMID 2843311.
  12. ↑ Stewart PM, Biller BM, Marelli C, Gunnarsson C, Ryan MP, Johannsson G (2016). "Exploring Inpatient Hospitalizations and Morbidity in Patients With Adrenal Insufficiency". J Clin Endocrinol Metab. 101 (12): 4843–4850. doi:10.1210/jc.2016-2221. PMID 27623069.
  13. ↑ Hughes IA (1988). "Management of congenital adrenal hyperplasia". Arch Dis Child. 63 (11): 1399–404. PMC 1779155. PMID 3060026.
  14. ↑ Lopes LA, Dubuis JM, Vallotton MB, Sizonenko PC (1998). "Should we monitor more closely the dosage of 9 alpha-fluorohydrocortisone in salt-losing congenital adrenal hyperplasia?". J. Pediatr. Endocrinol. Metab. 11 (6): 733–7. PMID 9829228.
  15. ↑ Jansen M, Wit JM, van den Brande JL (1981). "Reinstitution of mineralocorticoid therapy in congenital adrenal hyperplasia. Effects on control and growth". Acta Paediatr Scand. 70 (2): 229–33. PMID 7015786.
  16. ↑ Spritzer P, Billaud L, Thalabard JC, Birman P, Mowszowicz I, Raux-Demay MC, Clair F, Kuttenn F, Mauvais-Jarvis P (1990). "Cyproterone acetate versus hydrocortisone treatment in late-onset adrenal hyperplasia". J. Clin. Endocrinol. Metab. 70 (3): 642–6. doi:10.1210/jcem-70-3-642. PMID 2137832.
  17. ↑ Frank-Raue K, Junga G, Raue F, Vecsei P, Ziegler R (1990). "[Therapy of hirsutism in females with adrenal enzyme defects of steroid hormone biosynthesis: comparison of dexamethasone with cyproterone acetate]". Klin. Wochenschr. (in German). 68 (12): 597–601. PMID 2142968.
  18. ↑ 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.

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