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{{21-hydroxylase deficiency}}
{{Congenital adrenal hyperplasia}}
{{CMG}} {{AE}} {{MAD}}
==Overview==
Medical treatment of 21-hydroxylase deficiency disorder depends on age: neonatal treatment is hydrocortisone or fludrocortisone as early as possible. If treatment cannot be started by 9 weeks, it should not be given at all. Surgical correction of ambiguous genitalia is the best treatment.
 
Adults management: Hydrocortisone and Fludrocortisone acetate are the treatment of choice. CAH  patients need oral contraceptive pills to regulate the menstrual cycle and induction of ovulation.
 
==Medical Therapy==
=== Neonatal management ===
==== Prenatal diagnosis ====
* Virilization of female fetuses begins early so early diagnosis and treatment are required.
* Maternal administration of dexamethasone which crosses the placenta into the fetal circulation.
* If treatment cannot be started by 9 weeks, it should not be given at all.
* Treatment should be discontinued if male fetus which can be determined by cell-free fetal DNA.<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>
* 85% of managed cases appear quite normal after delivery.<ref name="pmid12213842">{{cite journal| author=Joint LWPES/ESPE CAH Working Group.| 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 | year= 2002 | volume= 87 | issue= 9 | pages= 4048-53 | pmid=12213842 | doi=10.1210/jc.2002-020611 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12213842  }}</ref>
* Side effects of prenatal dexamethasone:


{{CMG}} {{AE}} {{AAM}}
**Postnatal failure to thrive.<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>
**Psychomotor developmental delay.<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>
**No effect on IQ.<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>    
**Increased risk of cleft lip and palate.<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>
**Increased risk for psychiatric disturbances and ADHD.<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>


==Overview==
==== Neonatal treatment ====
The mainstay of therapy for congenital adrenal hyperplasia due to 21-hydroxylase deficiency is [[glucocorticoid]] replacement.
* Hydrocortisone is 20 to 30 mg/m<sup>2</sup>/day. 
* Fludrocortisone 100 mcg one gram or 4 mEq/kg/day of sodium chloride.  


==Medical Therapy==
* Growth suppression occurs in neonates treated with high doses of hydrocortisone.  
The mainstay of therapy for congenital adrenal hyperplasia due to 21-hydroxylase deficiency is [[glucocorticoid]] replacement.


===Early-onset: Severe 21-hydroxylase deficient congenital adrenal hyperplasia===
==== '''Ambiguous genitalia''' ====
====Salt-wasting crisis in infancy====
* The initial evaluation is pelvic ultrasonography to evaluate internal genitalia, karyotype for sex chromosome (SRY probe) material, measurement of 17-hydroxyprogesterone and serum electrolytes. Until results release, glucocorticoid, mineralocorticoid and sodium chloride should be initiated
*[[Hydrocortisone]] and intravenous [[saline]] and [[dextrose]] are the mainstay treatment of adrenal crisis.<ref name="Wikipeadia"> https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency</ref>
* Girls with classic CAH typically undergo reconstructive surgery, usually clitoroplasty and vaginoplasty.
*This treatment quickly restores [[blood volume]], [[blood pressure]], body sodium content, and reverses the [[hyperkalemia]].
*With appropriate treatment, most infants are out of danger within 24 hours.


====Long-term management of congenital adrenal hyperplasia====
==== Adrenal crisis ====
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:
* 20 mL/kg of normal saline should be administered.
*Initiating and monitoring hormone replacement
* An intravenous bolus of 2 to 4 mL/kg of 10 percent dextrose should be considered if there is significant hypoglycemia.  
*Stress coverage, crisis prevention, parental education
* Hyperkalemia should be corrected with the administration of glucose and insulin if necessary.
*Reconstructive surgery
*Optimizing growth
*Optimizing [[androgen]] suppression and fertility in women with congenital adrenal hyperplasia
=====Hormone replacement=====


*[[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.<ref name="Wikipeadia"> https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency</ref>
===Adults management===
:*[[Hydrocortisone]] or liquid [[prednisolone]] is preferred in infancy and childhood.
====21-Hydroxylase====
:*[[Prednisone]] or [[dexamethasone]] are often more convenient for adults.
:*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.
:*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.


*[[Mineralocorticoid]]s are replaced in all infants with salt-wasting and in most patients with elevated [[renin]] levels.<ref name="Wikipeadia"> https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency</ref>
====='''Glucocorticoids''' =====
:*[[Fludrocortisone]] is the only pharmaceutically available mineralocorticoid, doses of (0.05 to 2 mg) daily is recommended.
* Glucocorticoids reduce the excess production of adrenal androgens and reduce the excessive secretion of both corticotropin-releasing hormone and  ACTH.
:*[[Electrolyte]]s, [[renin]], and [[blood pressure]] levels are followed to optimize the dose.
* '''daily doses:''' hydrocortisone, a short-acting glucocorticoid, is the treatment of choice.


====Optimizing growth in congenital adrenal hyperplasia====
* Dexamethasone a very potent and long-acting glucocorticoid effectively suppresses ACTH secretion but almost always causes the development of Cushingoid features with chronic use.<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>
*[[Glucocorticoids]] are essential for health and dosing is always a matter of approximation. In even mildly excessive dose, glucocorticoids can slow growth.<ref name="Wikipeadia"> https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency</ref><ref name="pmid11344936">{{cite journal| author=Migeon CJ, Wisniewski AB| title=Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Growth, development, and therapeutic considerations. | journal=Endocrinol Metab Clin North Am | year= 2001 | volume= 30 | issue= 1 | pages= 193-206 | pmid=11344936 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11344936 }} </ref>
* Combination therapy, with typical doses of hydrocortisone to replace the cortisol deficiency during the day and a very small dose of a long-acting glucocorticoid. We suggest this approach when standard hydrocortisone regimens are ineffective.
*Adrenal androgens are readily converted to [[estradiol]], which accelerates [[bone age|bone maturation]] and can lead to early epiphyseal closure.
* '''Stress dosing''': patients with classic 21OHD should be provided stress dosing.<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>
*Rate of growth is assessed by checking the [[bone age]] every year or two through periodic measurement of [[17OHP]] and [[testosterone]] levels.
'''Mineralocorticoid replacement''' 
*[[Gonadotropin-releasing hormone]] agonists such as [[leuprolide]] are used to slow bone maturation and suppress precocious puberty.
* Fludrocortisone acetate, in a dose sufficient to restore normal serum potassium concentrations and plasma renin activity.<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>
*[[Antiandrogen]] such as [[flutamide]] reduce the conversion of testosterone to estradiol.
* The usual adult dose of fludrocortisone is 0.1 to 0.2 mg/day.<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>
*[[Aromatase inhibitor]] such as [[testolactone]] also block conversion of testosterone to estradiol.
* Patients who are undertreated and in chronic poor control develop testicular adrenal rest tumors.
*[[Bilateral adrenalectomy]] rarely used to remove the androgen sources.
*[[Growth hormone treatment]] is used to enhance growth.


===Childhood onset (simple virilizing) congenital adrenal hyperplasia===
===== '''Infertility in men''' =====
*Sperm production is often impaired in untreated men due to defected spermatogenesis and Leydig cells suppression.<ref name="pmid19258407">{{cite journal| author=Reisch N, Flade L, Scherr M, Rottenkolber M, Pedrosa Gil F, Bidlingmaier M et al.| title=High prevalence of reduced fecundity in men with congenital adrenal hyperplasia. | journal=J Clin Endocrinol Metab | year= 2009 | volume= 94 | issue= 5 | pages= 1665-70 | pmid=19258407 | doi=10.1210/jc.2008-1414 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19258407  }}</ref>
*Most of the patients have severe oligospermia. Moreover, Most of the untreated patients have testicular tumors that need surgical removal.
*An elevated FSH is a sensitive indicator for patients fertility condition but semen analysis is the specific test.<ref name="pmid17090637">{{cite journal| author=Claahsen-van der Grinten HL, Otten BJ, Takahashi S, Meuleman EJ, Hulsbergen-van de Kaa C, Sweep FC et al.| title=Testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia: evaluation of pituitary-gonadal function before and after successful testis-sparing surgery in eight patients. | journal=J Clin Endocrinol Metab | year= 2007 | volume= 92 | issue= 2 | pages= 612-5 | pmid=17090637 | doi=10.1210/jc.2006-1311 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17090637  }}</ref>


The mainstay of treatment is:<ref name="Wikipeadia"> https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency</ref>
===== '''Infertility in women''' =====
*Suppression of adrenal [[testosterone]] production by [[glucocorticoids]] such as [[hydrocortisone]]
* Lowering blood androgen levels helps women to control annoying cosmetic symptoms such as acne and hirsutism.
*Suppression of central [[precocious puberty]] by [[leuprolide]]
* Similar to polycystic ovary syndrome, CAH  patients need oral contraceptive pills to regulate the menstrual cycle and induction of ovulation.<ref name="pmid19250265">{{cite journal| author=Casteràs A, De Silva P, Rumsby G, Conway GS| title=Reassessing fecundity in women with classical congenital adrenal hyperplasia (CAH): normal pregnancy rate but reduced fertility rate. | journal=Clin Endocrinol (Oxf) | year= 2009 | volume= 70 | issue= 6 | pages= 833-7 | pmid=19250265 | doi=10.1111/j.1365-2265.2009.03563.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19250265  }}</ref>
*[[Mineralocorticoid]] in cases where the plasma [[renin]] activity is high
* Women need pregnancy should consult a surgeon to repair previous genital malformations.
*[[Aromatase]] inhibitiors slow bone maturation by reducing the amount of testosterone converted to [[estradiol]]. [[Estrogen]] blockers are also used for the same purpose
* hydrocortisone doesn’t pass placenta so, it can be used safely during pregnancy.
*Stress [[steroid]] coverage for significant illness or injury
* Glucocorticoids doses need to increase at end of pregnancy with careful monitoring.


===Late onset (nonclassical) congenital adrenal hyperplasia===
===11-Hydroxylase===  
*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.<ref name="Wikipeadia"> https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency</ref>
Treatment is similar to 21-hydroxylase deficiency with glucocorticoid replacement.  Clinical assessment of virilization, growth velocity, hair growth, menstrual function and blood pressure are necessary. Despite adequate glucocorticoid replacement, medication may be required to control blood pressure. Spironolactone is a good choice as well as calcium blockers.


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Revision as of 15:27, 21 July 2017

Congenital adrenal hyperplasia main page

Overview

Classification

21-hydroxylase deficiency
11β-hydroxylase deficiency
17 alpha-hydroxylase deficiency
3 beta-hydroxysteroid dehydrogenase deficiency
Cytochrome P450-oxidoreductase (POR) deficiency (ORD)
Lipoid congenital adrenal hyperplasia

Differential Diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mohammed Abdelwahed M.D[2]

Overview

Medical treatment of 21-hydroxylase deficiency disorder depends on age: neonatal treatment is hydrocortisone or fludrocortisone as early as possible. If treatment cannot be started by 9 weeks, it should not be given at all. Surgical correction of ambiguous genitalia is the best treatment.

Adults management: Hydrocortisone and Fludrocortisone acetate are the treatment of choice. CAH  patients need oral contraceptive pills to regulate the menstrual cycle and induction of ovulation.

Medical Therapy

Neonatal management

Prenatal diagnosis

  • Virilization of female fetuses begins early so early diagnosis and treatment are required.
  • Maternal administration of dexamethasone which crosses the placenta into the fetal circulation.
  • If treatment cannot be started by 9 weeks, it should not be given at all.
  • Treatment should be discontinued if male fetus which can be determined by cell-free fetal DNA.[1]
  • 85% of managed cases appear quite normal after delivery.[2]
  • Side effects of prenatal dexamethasone:
    • Postnatal failure to thrive.[3]
    • Psychomotor developmental delay.[4]
    • No effect on IQ.[5]    
    • Increased risk of cleft lip and palate.[6]
    • Increased risk for psychiatric disturbances and ADHD.[7]

Neonatal treatment

  • Hydrocortisone is 20 to 30 mg/m2/day. 
  • Fludrocortisone 100 mcg one gram or 4 mEq/kg/day of sodium chloride.
  • Growth suppression occurs in neonates treated with high doses of hydrocortisone.

Ambiguous genitalia 

  • The initial evaluation is pelvic ultrasonography to evaluate internal genitalia, karyotype for sex chromosome (SRY probe) material, measurement of 17-hydroxyprogesterone and serum electrolytes. Until results release, glucocorticoid, mineralocorticoid and sodium chloride should be initiated
  • Girls with classic CAH typically undergo reconstructive surgery, usually clitoroplasty and vaginoplasty.

Adrenal crisis

  • 20 mL/kg of normal saline should be administered.
  • An intravenous bolus of 2 to 4 mL/kg of 10 percent dextrose should be considered if there is significant hypoglycemia.  
  • Hyperkalemia should be corrected with the administration of glucose and insulin if necessary.

Adults management

21-Hydroxylase

Glucocorticoids 
  • Glucocorticoids reduce the excess production of adrenal androgens and reduce the excessive secretion of both corticotropin-releasing hormone and  ACTH.
  • daily doses: hydrocortisone, a short-acting glucocorticoid, is the treatment of choice.
  • Dexamethasone a very potent and long-acting glucocorticoid effectively suppresses ACTH secretion but almost always causes the development of Cushingoid features with chronic use.[8]
  • Combination therapy, with typical doses of hydrocortisone to replace the cortisol deficiency during the day and a very small dose of a long-acting glucocorticoid. We suggest this approach when standard hydrocortisone regimens are ineffective.
  • Stress dosing: patients with classic 21OHD should be provided stress dosing.[9]

Mineralocorticoid replacement 

  • Fludrocortisone acetate, in a dose sufficient to restore normal serum potassium concentrations and plasma renin activity.[10]
  • The usual adult dose of fludrocortisone is 0.1 to 0.2 mg/day.[11]
  • Patients who are undertreated and in chronic poor control develop testicular adrenal rest tumors.
Infertility in men
  • Sperm production is often impaired in untreated men due to defected spermatogenesis and Leydig cells suppression.[12]
  • Most of the patients have severe oligospermia. Moreover, Most of the untreated patients have testicular tumors that need surgical removal.
  • An elevated FSH is a sensitive indicator for patients fertility condition but semen analysis is the specific test.[13]
Infertility in women
  • Lowering blood androgen levels helps women to control annoying cosmetic symptoms such as acne and hirsutism.
  • Similar to polycystic ovary syndrome, CAH  patients need oral contraceptive pills to regulate the menstrual cycle and induction of ovulation.[14]
  • Women need pregnancy should consult a surgeon to repair previous genital malformations.
  • hydrocortisone doesn’t pass placenta so, it can be used safely during pregnancy.
  • Glucocorticoids doses need to increase at end of pregnancy with careful monitoring.

11-Hydroxylase

Treatment is similar to 21-hydroxylase deficiency with glucocorticoid replacement. Clinical assessment of virilization, growth velocity, hair growth, menstrual function and blood pressure are necessary. Despite adequate glucocorticoid replacement, medication may be required to control blood pressure. Spironolactone is a good choice as well as calcium blockers.

References

  1. ↑ 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).
  2. ↑ Joint LWPES/ESPE CAH Working Group. (2002). "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. doi:10.1210/jc.2002-020611. PMID 12213842.
  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.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ 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.
  9. ↑ 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.
  10. ↑ 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.
  11. ↑ Hughes IA (1988). "Management of congenital adrenal hyperplasia". Arch Dis Child. 63 (11): 1399–404. PMC 1779155. PMID 3060026.
  12. ↑ Reisch N, Flade L, Scherr M, Rottenkolber M, Pedrosa Gil F, Bidlingmaier M; et al. (2009). "High prevalence of reduced fecundity in men with congenital adrenal hyperplasia". J Clin Endocrinol Metab. 94 (5): 1665–70. doi:10.1210/jc.2008-1414. PMID 19258407.
  13. ↑ Claahsen-van der Grinten HL, Otten BJ, Takahashi S, Meuleman EJ, Hulsbergen-van de Kaa C, Sweep FC; et al. (2007). "Testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia: evaluation of pituitary-gonadal function before and after successful testis-sparing surgery in eight patients". J Clin Endocrinol Metab. 92 (2): 612–5. doi:10.1210/jc.2006-1311. PMID 17090637.
  14. ↑ Casteràs A, De Silva P, Rumsby G, Conway GS (2009). "Reassessing fecundity in women with classical congenital adrenal hyperplasia (CAH): normal pregnancy rate but reduced fertility rate". Clin Endocrinol (Oxf). 70 (6): 833–7. doi:10.1111/j.1365-2265.2009.03563.x. PMID 19250265.
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