21-hydroxylase deficiency history and symptoms: Difference between revisions
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In salt wasting type | In salt wasting type | ||
* Vomiting | * [[Vomiting]] | ||
* Weight loss | * [[Weight loss]] | ||
* Dehydration in a baby’s first few weeks of life | * [[Dehydration]] in a baby’s first few weeks of life | ||
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* Ambiguous genitalia | * [[Ambiguous genitalia]] | ||
* Clitoral enlargement | * [[Clitoromegaly|Clitoral]] enlargement | ||
* | * [[Labial fusion]] | ||
* Deep voice | * Deep voice | ||
* Greater aggressive tendencies than unaffected healthy women | * Greater aggressive tendencies than unaffected healthy women | ||
* Early puberty | * Early [[puberty]] | ||
* Adult short stature | * Adult [[short stature]] | ||
* Male-typical sexual behavior in girls and cross-gender role behavior | * 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 [[Hyperandrogenism|hyperandrogenemia]] and [[Anovulatory cycle|anovulatory cycles]] ([[fertility]] rate depends the enzyme amount). | ||
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* Normal appearing at birth(mostly) | * Normal appearing at birth(mostly) | ||
* Hyperpigmentation of the scrotum | * [[Hyperpigmentation]] of the [[scrotum]] | ||
* Enlarged phallus | * Enlarged [[Phallus (genus)|phallus]] | ||
* Deep voice | * Deep voice | ||
* Muscle growth | * Muscle growth | ||
* Early virilization at two to four years of age with (pubic hair, growth spurt, adult body odor). | * Early [[virilization]] at two to four years of age with ([[pubic hair]], [[Growth spurts|growth spurt]], adult [[body odor]]). | ||
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* Cognitive function disturbance such as IQ impairment | * [[Cognitive function]] disturbance such as IQ impairment | ||
* Male-typical cognitive pattern (better performance on spatial tasks, worse performance on verbal tasks) | * Male-typical cognitive pattern (better [[Performance status|performance]] on spatial tasks, worse performance on verbal tasks) | ||
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* Testicular masses due to testicular adrenal rest tumors | * [[Testicular masses]] due to testicular [[Adrenal tumor|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 | * [[Infertility]] due to [[seminiferous tubule]] obstruction, [[gonadal]] dysfunction as a result of testicular [[Adrenal tumor|adrenal rest tumors]], these tumors caused by high level of [[ACTH]] | ||
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|Non-classic type | |Non-classic type | ||
Revision as of 16:04, 1 August 2017
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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
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). In classical type, main symptoms can be sever 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
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]
| 21-OH deficiency type | Common symptoms | Less common symptoms | |||
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| Infancy | Female | Male | Female | Male | |
| Classic type |
In salt wasting type
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| Non-classic type |
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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.
- ↑ van der Kamp HJ, Wit JM (2004). "Neonatal screening for congenital adrenal hyperplasia". Eur. J. Endocrinol. 151 Suppl 3: U71–5. PMID 15554889.
- ↑ White PC, Speiser PW (2000). "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Endocr. Rev. 21 (3): 245–91. doi:10.1210/edrv.21.3.0398. PMID 10857554.
- ↑ 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. doi:10.1006/hbeh.1996.0038. PMID 9047259.