| Congenital adrenal hyperplasia | |
|---|---|
 | |
| Congenital adrenal hyperplasia enzymes. | |
| Specialty | Endocrinology  |
| Symptoms | Excessive urination of sodium, virilism, early, delayed, or absent puberty, hyperandrogenism |
| Usual onset | Before birth |
| Duration | Lifetime |
| Causes | Variants in genes responsible the enzymes required for the synthesis of cortisol in the adrenal cortex |
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis.[1][2] It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex.[3] Most of these disorders involve excessive or deficient production of hormones such as glucocorticoids, mineralocorticoids, or sex steroids,[4][2] and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults.[5] It is one of the most common autosomal recessive disorders in humans.[6][7][8]
- ^ El-Maouche D, Arlt W, Merke DP (November 2017). "Congenital adrenal hyperplasia" (PDF). Lancet. 390 (10108): 2194–2210. doi:10.1016/S0140-6736(17)31431-9. PMID 28576284. S2CID 13737960.
- ^ a b Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HFL, Miller WL, Murad MH, Oberfield SE, White PC (2018). "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline". The Journal of Clinical Endocrinology and Metabolism. 103 (11): 4043–4088. doi:10.1210/jc.2018-01865. PMC 6456929. PMID 30272171.
- ^ Speiser PW, White PC (August 2003). "Congenital adrenal hyperplasia". The New England Journal of Medicine. 349 (8): 776–88. doi:10.1056/NEJMra021561. PMID 12930931.
- ^ La, Betty; Tung, Celestine; Choi, Eugene A.; Nguyen, Ha (1 November 2021). "A Gigantic Uterine Leiomyoma and Big Bilateral Adrenal Myelolipomas as a Result of Untreated Congenital Adrenal Hyperplasia". AACE Clinical Case Reports. 7 (6): 342–345. doi:10.1016/j.aace.2021.05.002. PMC 8573279. PMID 34765728.
- ^ Aubrey Milunsky; Jeff Milunsky (29 January 2010). Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. John Wiley and Sons. pp. 600–. ISBN 978-1-4051-9087-9. Retrieved 14 June 2010.
- ^ Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New MI (July 1985). "High frequency of nonclassical steroid 21-hydroxylase deficiency". American Journal of Human Genetics. 37 (4): 650–67. PMC 1684620. PMID 9556656.
- ^ Krone N, Arlt W (April 2009). "Genetics of congenital adrenal hyperplasia". Best Practice & Research. Clinical Endocrinology & Metabolism. 23 (2): 181–92. doi:10.1016/j.beem.2008.10.014. PMC 5576025. PMID 19500762.
- ^ Turcu AF, Nanba AT, Chomic R, Upadhyay SK, Giordano TJ, Shields JJ, Merke DP, Rainey WE, Auchus RJ (May 2016). "Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency". European Journal of Endocrinology. 174 (5): 601–9. doi:10.1530/EJE-15-1181. PMC 4874183. PMID 26865584.