21-hydroxylase deficiency history and symptoms: Difference between revisions
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==History and Symptoms== | ==History and Symptoms== | ||
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{{Congenital adrenal hyperplasia}} | |||
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==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== | |||
=== '''Congenital adrenal hyperplasia symotpms differ according to type of disease and gender of patient:''' === | |||
==== '''Classic CAH or early onset:''' ==== | |||
Classic cases of congenital adrenal hyperplasia come in two forms: | |||
'''Salt-wasting CAH''' | |||
* Baby girls with ambiguous genitalia. | |||
* Baby boys may have enlarged penises and develop masculine features before puberty. | |||
* Salt-wasting CAH can lead to life-threatening cases of vomiting, weight loss and dehydration in a baby’s first few weeks of life. | |||
'''simple virilizing CAH''' | |||
* Patients don't show hypotension, hyperkalemia and acidosis crisis 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 puberty, acne, hirsutism, and menstrual irregularity. | |||
* Children with CAH are at risk for adult short stature due to high levels of sex hormones causing premature epiphyseal closure.<ref name="pmid11148508">{{cite journal| author=Eugster EA, Dimeglio LA, Wright JC, Freidenberg GR, Seshadri R, Pescovitz OH| title=Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis. | journal=J Pediatr | year= 2001 | volume= 138 | issue= 1 | pages= 26-32 | pmid=11148508 | doi=10.1067/mpd.2001.110527 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11148508 }}</ref> | |||
* Female patients with classic CAH have more male-typical palying<ref name="pmid19100266">{{cite journal| author=Mathews GA, Fane BA, Conway GS, Brook CG, Hines M| title=Personality and congenital adrenal hyperplasia: possible effects of prenatal androgen exposure. | journal=Horm Behav | year= 2009 | volume= 55 | issue= 2 | pages= 285-91 | pmid=19100266 | doi=10.1016/j.yhbeh.2008.11.007 | pmc=3296092 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19100266 }}</ref>and greater aggressive tendencies. | |||
* Fertility rates in women are low.<ref name="pmid3491959">{{cite journal| author=Mulaikal RM, Migeon CJ, Rock JA| title=Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | journal=N Engl J Med | year= 1987 | volume= 316 | issue= 4 | pages= 178-82 | pmid=3491959 | doi=10.1056/NEJM198701223160402 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3491959 }}</ref>Hyperandrogenism results in anovulatory cycles.<ref name="pmid12665708">{{cite journal| author=Stikkelbroeck NM, Hermus AR, Braat DD, Otten BJ| title=Fertility in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | journal=Obstet Gynecol Surv | year= 2003 | volume= 58 | issue= 4 | pages= 275-84 | pmid=12665708 | doi=10.1097/01.OGX.0000062966.93819.5B | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12665708 }}</ref>Genital malformations from congenital ambiguous genitals may contribute to low fertility.<ref name="pmid18420648">{{cite journal| author=Hagenfeldt K, Janson PO, Holmdahl G, Falhammar H, Filipsson H, Frisén L et al.| title=Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | journal=Hum Reprod | year= 2008 | volume= 23 | issue= 7 | pages= 1607-13 | pmid=18420648 | doi=10.1093/humrep/den118 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18420648 }}</ref>Careful management with monitoring of androgen levels during gestation is indicated.<ref name="pmid10084573">{{cite journal| author=Lo JC, Schwitzgebel VM, Tyrrell JB, Fitzgerald PA, Kaplan SL, Conte FA et al.| title=Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | journal=J Clin Endocrinol Metab | year= 1999 | volume= 84 | issue= 3 | pages= 930-6 | pmid=10084573 | doi=10.1210/jcem.84.3.5565 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10084573 }}</ref> | |||
* Males show testicular adrenal tumors which are testicular masses of adrenal-like tissue.<ref name="pmid12835972">{{cite journal| author=Stikkelbroeck NM, Suliman HM, Otten BJ, Hermus AR, Blickman JG, Jager GJ| title=Testicular adrenal rest tumours in postpubertal males with congenital adrenal hyperplasia: sonographic and MR features. | journal=Eur Radiol | year= 2003 | volume= 13 | issue= 7 | pages= 1597-603 | pmid=12835972 | doi=10.1007/s00330-002-1786-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12835972 }}</ref>They are more common in patients with the salt-losing form than the simple virilizing form.<ref name="pmid15198296">{{cite journal| author=Stikkelbroeck NM, Hermus AR, Suliman HM, Jager GJ, Otten BJ| title=Asymptomatic testicular adrenal rest tumours in adolescent and adult males with congenital adrenal hyperplasia: basal and follow-up investigation after 2.6 years. | journal=J Pediatr Endocrinol Metab | year= 2004 | volume= 17 | issue= 4 | pages= 645-53 | pmid=15198296 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15198296 }}</ref>They may lead to obstruction of seminiferous tubules and infertility. Other causes of low fertility is impaired spermatogenesis.<ref name="pmid128359722">{{cite journal| author=Stikkelbroeck NM, Suliman HM, Otten BJ, Hermus AR, Blickman JG, Jager GJ| title=Testicular adrenal rest tumours in postpubertal males with congenital adrenal hyperplasia: sonographic and MR features. | journal=Eur Radiol | year= 2003 | volume= 13 | issue= 7 | pages= 1597-603 | pmid=12835972 | doi=10.1007/s00330-002-1786-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12835972 }}</ref> | |||
* Fertility rates are related to the severity of the mutation.<ref name="pmid18029470">{{cite journal| author=Nordenskjöld A, Holmdahl G, Frisén L, Falhammar H, Filipsson H, Thorén M et al.| title=Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia. | journal=J Clin Endocrinol Metab | year= 2008 | volume= 93 | issue= 2 | pages= 380-6 | pmid=18029470 | doi=10.1210/jc.2007-0556 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18029470 }}</ref> | |||
==References== | |||
{{Reflist|2}} | |||
Symptoms of 21-hydroxylase deficient congenital adrenal hyperplasia include: | Symptoms of 21-hydroxylase deficient congenital adrenal hyperplasia include: | ||
===Symptoms of adrenal hyperplasia in infants=== | ===Symptoms of adrenal hyperplasia in infants=== | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2] Ahmad Al Maradni, M.D. [3]
Overview
Symptoms of 21-hydroxylase deficient congenital adrenal hyperplasia include dehydration, vomiting, and weight loss. Late symptoms include virilization and infertility.
History and Symptoms
|
Congenital adrenal hyperplasia main page |
Please help WikiDoc by adding more content here. It's easy! Click here to learn about editing.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [4]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [5]
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
Congenital adrenal hyperplasia symotpms differ according to type of disease and gender of patient:
Classic CAH or early onset:
Classic cases of congenital adrenal hyperplasia come in two forms:
Salt-wasting CAH
- Baby girls with ambiguous genitalia.
- Baby boys may have enlarged penises and develop masculine features before puberty.
- Salt-wasting CAH can lead to life-threatening cases of vomiting, weight loss and dehydration in a baby’s first few weeks of life.
simple virilizing CAH
- Patients don't show hypotension, hyperkalemia and acidosis crisis 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 puberty, acne, hirsutism, and menstrual irregularity.
- Children with CAH are at risk for adult short stature due to high levels of sex hormones causing premature epiphyseal closure.[1]
- 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 21-hydroxylase deficient congenital adrenal hyperplasia include:
Symptoms of adrenal hyperplasia in infants
In this form of congenital adrenal hyperplasia, newborns develop severe symptoms shortly after birth due to loss of salt, which include:
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