21-hydroxylase deficiency history and symptoms

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Mehrian Jafarizade, M.D [2]

Overview

Symptoms of 21-hydroxylase deficiency range from severe to mild or asymptomatic forms, depending on the degree of 21-hydroxylase enzyme deficiency. There are three main clinical phenotypes: classic salt-wasting, classic non-salt-wasting (simple virilizing), and non-classic (late-onset). In classical type, main symptoms can be severe hypotension due to adrenal crisis, ambiguous genitalia in females, and no symptoms or larger phallus in males. In non-classic types, infants and male patients may have no symptoms and females may show virilization symptoms after puberty.

History and Symptoms

Symptoms of 21-hydroxylase deficiency range from mild to severe. Some asymptomatic forms have also been identified. Variability of symptoms depends upon the degree of 21-hydroxylase enzyme deficiency. There are three main clinical phenotypes: classic salt-wasting, classic non-salt-wasting (virilization), and non-classic (late-onset):[1][2][3][4][5][6][7][8]

21-OH deficiency type Common symptoms Less common symptoms
Infancy Female Male Female Male
Classic type

In salt wasting type

  • Normal appearing at birth (mostly)
  • Male-typical cognitive pattern (better performance on spatial tasks, worse performance on verbal tasks)
Non-classic type
  • No symptoms
  • No symptoms
 

References

  1. Eugster EA, Dimeglio LA, Wright JC, Freidenberg GR, Seshadri R, Pescovitz OH (2001). "Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis.". J Pediatr. 138 (1): 26–32. PMID 11148508. doi:10.1067/mpd.2001.110527. 
  2. Mathews GA, Fane BA, Conway GS, Brook CG, Hines M (2009). "Personality and congenital adrenal hyperplasia: possible effects of prenatal androgen exposure.". Horm Behav. 55 (2): 285–91. PMC 3296092Freely accessible. PMID 19100266. doi:10.1016/j.yhbeh.2008.11.007. 
  3. Mulaikal RM, Migeon CJ, Rock JA (1987). "Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.". N Engl J Med. 316 (4): 178–82. PMID 3491959. doi:10.1056/NEJM198701223160402. 
  4. Stikkelbroeck NM, Hermus AR, Braat DD, Otten BJ (2003). "Fertility in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.". Obstet Gynecol Surv. 58 (4): 275–84. PMID 12665708. doi:10.1097/01.OGX.0000062966.93819.5B. 
  5. Hagenfeldt K, Janson PO, Holmdahl G, Falhammar H, Filipsson H, Frisén L; et al. (2008). "Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.". Hum Reprod. 23 (7): 1607–13. PMID 18420648. doi:10.1093/humrep/den118. 
  6. van der Kamp HJ, Wit JM (2004). "Neonatal screening for congenital adrenal hyperplasia". Eur. J. Endocrinol. 151 Suppl 3: U71–5. PMID 15554889. 
  7. White PC, Speiser PW (2000). "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Endocr. Rev. 21 (3): 245–91. PMID 10857554. doi:10.1210/edrv.21.3.0398. 
  8. Zucker KJ, Bradley SJ, Oliver G, Blake J, Fleming S, Hood J (1996). "Psychosexual development of women with congenital adrenal hyperplasia". Horm Behav. 30 (4): 300–18. PMID 9047259. doi:10.1006/hbeh.1996.0038. 

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