Congenital adrenal hyperplasia

Congenital adrenal hyperplasia
Congenital adrenal hyperplasia enzymes.
SpecialtyEndocrinology Edit this on Wikidata
SymptomsExcessive urination of sodium, virilism, early, delayed, or absent puberty, hyperandrogenism
Usual onsetBefore birth
DurationLifetime
CausesVariants 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]

  1. ^ 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.
  2. ^ 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.
  3. ^ 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.
  4. ^ 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.
  5. ^ 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.
  6. ^ 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.
  7. ^ 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.
  8. ^ 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.