CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorMOURA-MASSARI, V. O.
dc.contributor.authorBUGANO, D. D. G.
dc.contributor.authorMARCONDES, J. A. M.
dc.contributor.authorGOMES, L. G.
dc.contributor.authorMENDONCA, B. B.
dc.contributor.authorBACHEGA, T. A. S. S.
dc.date.accessioned2013-09-23T16:36:02Z
dc.date.available2013-09-23T16:36:02Z
dc.date.issued2013
dc.description.abstractThere is a strong correlation between the severity of genotypes and 17OH-progesterone levels in patients with the nonclassical form of 21-hydroxylase deficiency (NC-CAH); however, there are few studies regarding the correlation with clinical signs. The aim of the study was to evaluate whether genotypes correlate with the severity of the hyperandrogenic phenotype. A cohort of 114 NC-CAH patients were diagnosed by stimulated-17OHP >= 10 ng/ml. CYP21A2 genotypes were divided into 2 groups according to the severity of enzymatic impairment; mild and severe. Clinical data and hormonal profiles were compared between the 2 groups. Age at onset of manifestations did not differ between children or adults carrying both mild and severe genotypes. Frequencies of precocious pubarche and hirsutism, with or without menstrual abnormalities, were similar between the 2 groups. There were no differences in basal testosterone levels of adult symptomatic females carrying both genotypes, but there were differences between adult females with (92.9 +/- 49.5 ng/dl) and without hirsutism (43.8 +/- 38 ng/dl) (p=0.0002). Similar frequencies of both genotypes were observed in asymptomatic females and in those with clitoromegaly. Nonclassical genotypes do not predict the severity of phenotype. Asymptomatic and virilized females carrying the same genotype suggest that there is a modulatory effect of genes involved in the androgen pathway on the phenotype.
dc.description.indexMEDLINE
dc.description.sponsorshipFAPESP [05/04726-0, 08/51624-6]
dc.description.sponsorshipCNPq [305117/2009-2, 305743/2011-2]
dc.identifier.citationHORMONE AND METABOLIC RESEARCH, v.45, n.4, p.301-307, 2013
dc.identifier.doi10.1055/s-0032-1330007
dc.identifier.issn0018-5043
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/1736
dc.language.isoeng
dc.publisherGEORG THIEME VERLAG KG
dc.relation.ispartofHormone and Metabolic Research
dc.rightsrestrictedAccess
dc.rights.holderCopyright GEORG THIEME VERLAG KG
dc.subject21-hydroxylase deficiency
dc.subjectgenotype/phenotype correlation
dc.subjecthyperandrogenic manifestations
dc.subjectallelic distribution
dc.subjectnonclassical form
dc.subject.othersteroid 21-hydroxylase deficiency
dc.subject.otherpolycystic-ovary-syndrome
dc.subject.otherstimulated 17-hydroxyprogesterone
dc.subject.othermutational spectrum
dc.subject.otherbrazilian patients
dc.subject.otherwomen
dc.subject.otherphenotype
dc.subject.othergene
dc.subject.otherassociation
dc.subject.otherhirsutism
dc.subject.wosEndocrinology & Metabolism
dc.titleCYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.author.externalMOURA-MASSARI, V. O.:Univ Sao Paulo, Fac Med, Disciplina Endocrinol,Hosp Clin, Unidade Suprarrenal,Lab Hormonios & Genet Mol LIM, Sao Paulo, Brazil
hcfmusp.citation.scopus17
hcfmusp.contributor.author-fmusphcDIOGO BUGANO DINIZ GOMES
hcfmusp.contributor.author-fmusphcJOSE ANTONIO MIGUEL MARCONDES
hcfmusp.contributor.author-fmusphcLARISSA GARCIA GOMES
hcfmusp.contributor.author-fmusphcBERENICE BILHARINHO DE MENDONCA
hcfmusp.contributor.author-fmusphcTANIA APARECIDA SARTORI SANCHEZ BACHEGA
hcfmusp.description.beginpage301
hcfmusp.description.endpage307
hcfmusp.description.issue4
hcfmusp.description.volume45
hcfmusp.origemWOS
hcfmusp.origem.pubmed23322511
hcfmusp.origem.scopus2-s2.0-84886769314
hcfmusp.origem.wosWOS:000317910700010
hcfmusp.publisher.citySTUTTGART
hcfmusp.publisher.countryGERMANY
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hcfmusp.remissive.sponsorshipCNPq
hcfmusp.remissive.sponsorshipFAPESP
hcfmusp.scopus.lastupdate2024-05-17
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