21-hydroxylase deficiency history and symptoms: Difference between revisions
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!Female | !Female | ||
!Male | !Male | ||
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!Female | !Female | ||
!Male | !Male | ||
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| | |Classic type | ||
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In salt wasting type | |||
* Vomiting | |||
* | * Weight loss | ||
* | * Dehydration in a baby’s first few weeks of life | ||
* | |||
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* Ambiguous genitalia | * Ambiguous genitalia | ||
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* Deep voice | * Deep voice | ||
* Greater aggressive tendencies than unaffected healthy women | * Greater aggressive tendencies than unaffected healthy women | ||
* Early puberty | |||
* Adult short stature | |||
* Male-typical sexual behavior in girls and cross-gender role behavior | |||
* Decreased fertility due to hyperandrogenemia and anovulatory cycles (fertility rate depends the enzyme amount). | * Decreased fertility due to hyperandrogenemia and anovulatory cycles (fertility rate depends the enzyme amount). | ||
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* Male-typical cognitive pattern (better performance on spatial tasks, worse performance on verbal tasks) | * Male-typical cognitive pattern (better performance on spatial tasks, worse performance on verbal tasks) | ||
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* Testicular adrenal rest tumors | * Testicular masses due to testicular adrenal rest tumors | ||
* Infertility due to seminiferous tubule obstruction, gonadal dysfunction as a result of testicular adrenal rest tumors, these tumors caused by high level of ACTH | |||
|- | |- | ||
|Late onset disease | |Late onset disease | ||
Revision as of 19:45, 13 July 2017
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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Microchapters |
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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):[1][2][3][4][5][6][7][8][9]
| 21-OH deficiency type | Common symptoms | Less common symptoms | ||||
|---|---|---|---|---|---|---|
| Child | Female | Male | infancy | Female | Male | |
| Classic type |
In salt wasting type
|
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| Late onset disease |
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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.
- ↑ 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.