Congenital adrenal hyperplasia history and symptoms: Difference between revisions
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==Overview== | ==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== | ==History and Symptoms== | ||
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 | *: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:''' | ||
*: | *:In cases of 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, and menstrual irregularity. | |||
*:Children with CAH are at risk for adult short stature 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="pmid2101963">{{cite journal| author=Dittmann RW, Kappes MH, Kappes ME, Börger D, Stegner H, Willig RH et al.| title=Congenital adrenal hyperplasia. I: Gender-related behavior and attitudes in female patients and sisters. | journal=Psychoneuroendocrinology | year= 1990 | volume= 15 | issue= 5-6 | pages= 401-20 | pmid=2101963 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2101963 }}</ref>and greater aggressive tendencies. | |||
*:Fertility rates in women are low.<ref name="pmid10372672">{{cite journal| author=Meyer-Bahlburg HF| title=What causes low rates of child-bearing in congenital adrenal hyperplasia? | journal=J Clin Endocrinol Metab | year= 1999 | volume= 84 | issue= 6 | pages= 1844-7 | pmid=10372672 | doi=10.1210/jcem.84.6.5718 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10372672 }}</ref> | |||
*:Hyperandrogenemia resulting in anovulatory cycles.<ref name="pmid152409">{{cite journal| author=Urban MD, Lee PA, Migeon CJ| title=Adult height and fertility in men with congenital virilizing adrenal hyperplasia. | journal=N Engl J Med | year= 1978 | volume= 299 | issue= 25 | pages= 1392-6 | pmid=152409 | doi=10.1056/NEJM197812212992505 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=152409 }}</ref> | |||
*:Structural factors related to genital malformations may contribute to impaired reproductive self-image.<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> | |||
*:Testicular adrenal tumors which are testicular masses composed of adrenal-like tissue are common in male patients with classic CAH. | |||
*:<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> Bilateral. They may lead to obstruction of seminiferous tubules and infertility. requires surgery for pain relief. Leydig cell failure or 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> | |||
*:Plasma epinephrine and metanephrine concentrations and urinary epinephrine excretion lower than in normal subjects.<ref name="pmid11070100">{{cite journal| author=Merke DP, Chrousos GP, Eisenhofer G, Weise M, Keil MF, Rogol AD et al.| title=Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency. | journal=N Engl J Med | year= 2000 | volume= 343 | issue= 19 | pages= 1362-8 | pmid=11070100 | doi=10.1056/NEJM200011093431903 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11070100 }}</ref> | |||
*:The virilization of neonates may be mild or as severe as 21-hydroxylase deficiencies. Hypertension and hypokalemia are present in 2/3 and help distinguish from 21-hydroxylase deficiencies. | |||
==References== | ==References== | ||
Revision as of 14:43, 11 July 2017
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Congenital adrenal hyperplasia main page |
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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]
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
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:
- In cases of 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, and menstrual irregularity.
- Children with CAH are at risk for adult short stature 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]
- Hyperandrogenemia resulting in anovulatory cycles.[4]
- Structural factors related to genital malformations may contribute to impaired reproductive self-image.[5]
- Careful management with monitoring of androgen levels during gestation is indicated.[6]
- Testicular adrenal tumors which are testicular masses composed of adrenal-like tissue are common in male patients with classic CAH.
- [7]
- They are more common in patients with the salt-losing form than the simple virilizing form.[8] Bilateral. They may lead to obstruction of seminiferous tubules and infertility. requires surgery for pain relief. Leydig cell failure or impaired spermatogenesis[9]
- Fertility rates are related to the severity of the mutation.[10]
- Plasma epinephrine and metanephrine concentrations and urinary epinephrine excretion lower than in normal subjects.[11]
- The virilization of neonates may be mild or as severe as 21-hydroxylase deficiencies. Hypertension and hypokalemia are present in 2/3 and help distinguish from 21-hydroxylase deficiencies.
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.
- ↑ Dittmann RW, Kappes MH, Kappes ME, Börger D, Stegner H, Willig RH; et al. (1990). "Congenital adrenal hyperplasia. I: Gender-related behavior and attitudes in female patients and sisters". Psychoneuroendocrinology. 15 (5–6): 401–20. PMID 2101963.
- ↑ Meyer-Bahlburg HF (1999). "What causes low rates of child-bearing in congenital adrenal hyperplasia?". J Clin Endocrinol Metab. 84 (6): 1844–7. doi:10.1210/jcem.84.6.5718. PMID 10372672.
- ↑ Urban MD, Lee PA, Migeon CJ (1978). "Adult height and fertility in men with congenital virilizing adrenal hyperplasia". N Engl J Med. 299 (25): 1392–6. doi:10.1056/NEJM197812212992505. PMID 152409.
- ↑ 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.
- ↑ Merke DP, Chrousos GP, Eisenhofer G, Weise M, Keil MF, Rogol AD; et al. (2000). "Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency". N Engl J Med. 343 (19): 1362–8. doi:10.1056/NEJM200011093431903. PMID 11070100.