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Molecular diagnosis of CYP21A2 gene in affected cases with congenital adrenal hyperplasia and familial implications for prenatal diagnosis

2018-05-11Documento de conferência Acesso restrito
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dc.contributor.authorGomes, Susana
dc.contributor.authorSilva, Júlia
dc.contributor.authorPereira-Caetano, Iris
dc.contributor.authorGonçalves, João
dc.contributor.authorGomes, Susana
dc.date.accessioned2019-02-25T15:02:19Z
dc.date.available2019-02-25T15:02:19Z
dc.date.issued2018-05-11
dc.description.abstractCongenital Adrenal Hyperplasia (CAH) can be due to one of seven different enzymes involved in the synthesis of cortisol. Deficiency in 21-hydroxylase (21-OHD) is responsible for 90 – 95% of the CAH cases. The clinical symptoms of CAH are directly related with 21-OH activity which is associated with the CYP21A2 genotype. CYP21A2 gene cluster is prone to genetic recombination events leading to a wide variety of complex rearrangements (duplications, deletions, conversions) and point mutations. CAH can be divided in two clinical conditions – the classic form [saltwasting(SW) and simple virilising(SV)] and the non-classic(NC) form of the disease. While SW is usually diagnosed in neonates, SV are mainly detected during the first years of life and, most cases of NC-CAH are usually diagnosed from the 4th year of life until puberty or until adulthood. We present here the molecular results obtained in 265 patients with CAH. The clinical diagnose was established in these patients between the 5th day of life until adulthood (<18 years old). When available, both parents of the affected patients were also analysed after informed consent has been obtained.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/5943
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.subjectCYP21A2pt_PT
dc.subjectCongenital Adrenal Hyperplasiapt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleMolecular diagnosis of CYP21A2 gene in affected cases with congenital adrenal hyperplasia and familial implications for prenatal diagnosispt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlacePorto, Portugalpt_PT
oaire.citation.titleXLVII Conferências Genéticas Doutor Jacinto de Magalhães – A Genética na Endocrinologia e no Metabolismo, 11 maio 2018pt_PT
rcaap.rightsrestrictedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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