21-hydroxylase deficiency medical therapy

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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. PMID 15964450. doi:10.1016/S0140-6736(05)66736-0. 
  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. PMID 12213842. doi:10.1210/jc.2002-020611. 
  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. PMC 2936060Freely accessible. PMID 20823466. doi:10.1210/jc.2009-2631. 
  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. PMC 2936060Freely accessible. PMID 20823466. doi:10.1210/jc.2009-2631. 
  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. PMID 9814461. doi:10.1210/jcem.83.11.5233. 
  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. PMID 18060943. doi:10.1016/j.ajog.2007.05.046. 
  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. PMID 27482827. doi:10.1210/jc.2016-1543. 
  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. PMC 3838350Freely accessible. PMID 24278432. doi:10.1371/journal.pone.0081394. 
  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. PMID 27623069. doi:10.1210/jc.2016-2221. 
  13. Hughes IA (1988). "Management of congenital adrenal hyperplasia.". Arch Dis Child. 63 (11): 1399–404. PMC 1779155Freely accessible. 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. PMID 2137832. doi:10.1210/jcem-70-3-642. 
  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. PMC 4163910Freely accessible. PMID 24622419. doi:10.1016/S2213-8587(13)70138-4. 

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