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
Classic CAH salt-wasting CAH Baby girls with ambiguous genitalia with life-threatening cases of vomiting, weight loss and dehydration in a baby’s first few weeks of life or simple virilizing CAH but girls will have ambiguous genitalia. baby boys may have enlarged penises. nonclassic or late onset CAH Patients don't show any signs in early life but show premature pubarche, acne, hirsutism.
History and Symptoms
Symptom of 21-hydroxylase deficiency ranges 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):
| 21-OH deficiency type | Common symptoms | Less common symptoms | ||||
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| Child | Female | Male | Child | Female | Male | |
| Classical salt wasting |
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| Classical non-salt wasting |
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| Late onset disease |
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- Female patients with classic CAH have more male-typical palying[2]and greater aggressive tendencies.
- Fertility rates in women are low.[3]Hyperandrogenism results in anovulatory cycles.[4]Genital malformations from congenital ambiguous genitals may contribute to low fertility.[5]Careful management with monitoring of androgen levels during gestation is indicated.[6]
- Males show testicular adrenal tumors which are testicular masses of adrenal-like tissue.[7]They are more common in patients with the salt-losing form than the simple virilizing form.[8]They may lead to obstruction of seminiferous tubules and infertility. Other causes of low fertility is impaired spermatogenesis.[9]
- Fertility rates are related to the severity of the mutation.[10]
References
- ↑ 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. doi:10.1067/mpd.2001.110527. PMID 11148508.
- ↑ 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. doi:10.1016/j.yhbeh.2008.11.007. PMC 3296092. PMID 19100266.
- ↑ 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. doi:10.1056/NEJM198701223160402. PMID 3491959.
- ↑ 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. doi:10.1097/01.OGX.0000062966.93819.5B. PMID 12665708.
- ↑ 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. doi:10.1093/humrep/den118. PMID 18420648.
- ↑ Lo JC, Schwitzgebel VM, Tyrrell JB, Fitzgerald PA, Kaplan SL, Conte FA; et al. (1999). "Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency". J Clin Endocrinol Metab. 84 (3): 930–6. doi:10.1210/jcem.84.3.5565. PMID 10084573.
- ↑ Stikkelbroeck NM, Suliman HM, Otten BJ, Hermus AR, Blickman JG, Jager GJ (2003). "Testicular adrenal rest tumours in postpubertal males with congenital adrenal hyperplasia: sonographic and MR features". Eur Radiol. 13 (7): 1597–603. doi:10.1007/s00330-002-1786-3. PMID 12835972.
- ↑ Stikkelbroeck NM, Hermus AR, Suliman HM, Jager GJ, Otten BJ (2004). "Asymptomatic testicular adrenal rest tumours in adolescent and adult males with congenital adrenal hyperplasia: basal and follow-up investigation after 2.6 years". J Pediatr Endocrinol Metab. 17 (4): 645–53. PMID 15198296.
- ↑ Stikkelbroeck NM, Suliman HM, Otten BJ, Hermus AR, Blickman JG, Jager GJ (2003). "Testicular adrenal rest tumours in postpubertal males with congenital adrenal hyperplasia: sonographic and MR features". Eur Radiol. 13 (7): 1597–603. doi:10.1007/s00330-002-1786-3. PMID 12835972.
- ↑ Nordenskjöld A, Holmdahl G, Frisén L, Falhammar H, Filipsson H, Thorén M; et al. (2008). "Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia". J Clin Endocrinol Metab. 93 (2): 380–6. doi:10.1210/jc.2007-0556. PMID 18029470.
Symptoms of adrenal hyperplasia in children
- Ambiguous genitalia or virilizing genitalia in girls (often appearing more male than female: deep voice, early appearance of pubic and armpit hair, and excessive hair growth and facial hair)
- Early appearance of masculinization characteristics in boys (deep voice, early appearance of pubic and armpit hair, enlarged penis, small testes, and well-developed muscles)
Symptoms of adrenal hyperplasia in adults
Symptoms of adrenal hyperplasia in children and adults may include:
- Metrorrhagia and amenorrhea in girls
- Infertility