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Use este identificador para citar ou linkar para este item: https://repositorio.ufba.br/handle/ri/40833
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Campo DCValorIdioma
dc.creatorLima, Sylvia Márcia Fernandes dos Santos-
dc.date.accessioned2025-01-07T16:32:01Z-
dc.date.available12-12-18-
dc.date.available2025-01-07T16:32:01Z-
dc.date.issued12-12-13-
dc.identifier.urihttps://repositorio.ufba.br/handle/ri/40833-
dc.languageporpt_BR
dc.publisherUNIVERSIDADE FEDERAL DA BAHIApt_BR
dc.rightsAcesso Abertopt_BR
dc.subjectSíndrome de Klinefelterpt_BR
dc.subjectSíndrome de interrupção do pedúnculo hipofisáriopt_BR
dc.subjectHipopituitarismopt_BR
dc.subjectBaixa estaturapt_BR
dc.subject.otherKlinefelter syndromept_BR
dc.subject.otherPituitary stalk interruption syndromept_BR
dc.subject.otherHypopituitarismpt_BR
dc.subject.otherShort staturept_BR
dc.titleSíndrome de klinefelter com hipopituitarismo: uma rara associaçãopt_BR
dc.title.alternativeKlinefelter syndrome with hypopituitarism: a rare associationpt_BR
dc.typeTrabalho de Conclusão de Cursopt_BR
dc.publisher.initialsUFBApt_BR
dc.publisher.countryBrasilpt_BR
dc.subject.cnpqCNPQ::CIENCIAS DA SAUDEpt_BR
dc.contributor.advisor1Faria Júnio, José Antônio Diniz-
dc.contributor.referee1Faria Júnior, José Antônio Diniz-
dc.contributor.referee1IDhttps://orcid.org/0000-0003-4322-4568pt_BR
dc.contributor.referee1Latteshttp://lattes.cnpq.br/6487057126821023pt_BR
dc.contributor.referee2Bittencourt, Alcina Maria Vinhaes-
dc.contributor.referee2IDhttps://orcid.org/0000-0003-0506-9210pt_BR
dc.contributor.referee2Latteshttp://lattes.cnpq.br/9177974795276916pt_BR
dc.description.resumoIntrodução: A síndrome de Klinefelter (SK) é caracterizada por hipogonadismo hipergonadotrófico, testículos pequenos, alta estatura e comprometimento neurocognitivo. Em 80% dos casos o cariótipo é 47,XXY e 20% mostram mosaicismo ou cromossomos X estruturalmente anormais. A síndrome de interrupção do pedúnculo hipofisário (PSIS) é uma doença rara relacionada ao desenvolvimento da hipófise. A tríade clássica na ressonância magnética (RNM) de hipófise envolve um pedúnculo pituitário fino ou interrompido, hipófise posterior ectópica (ou ausente) e hipoplasia (ou aplasia) da hipófise anterior, mas não são necessárias as três características para o diagnóstico. Ocorre deficiência do hormônio do crescimento (GH) isolada ou associada a pan-hipopituitarismo. Não há relatos na literatura de casos com as duas síndromes em associação. Objetivo: Relatar o caso de uma criança com diagnóstico de SK associada a baixa estatura e hipopituitarismo pela síndrome de interrupção da haste hipofisária. A literatura a respeito das síndromes é revisada e discutida. Apresentação do caso clínico: paciente masculino, 10 anos e 2 meses, apresentando atraso global do desenvolvimento, alterações comportamentais, epilepsia, dismorfismos faciais e baixa estatura, e diagnóstico de SK 47,XXY. Ao exame endocrinológico, além dos dismorfismos faciais, tinha baixa estatura (116cm; -3,53DP), testículos firmes e pequenos (2ml) e o pênis media 6,5cm, com estágio Tanner G3P2. A investigação laboratorial revelou hipopituitarismo com deficiência de TSH, ACTH e GH e a RNM da hipófise evidenciou glândula reduzida com haste afilada e neuro-hipófise ectópica ao nível do infundíbulo. O paciente iniciou terapia de reposição com levotiroxina e glicocorticoide, ainda pendente o início da somatropina. Vem clinicamente bem e com aumento na velocidade de crescimento. Considerações finais: SK associada a hipopituitarismo é raro e não há casos descritos na literatura de associação com PSIS. Esse caso destaca a necessidade de investigação adicional em pacientes com SK com fenótipos inesperados, devendo incitar a solicitação de exames complementares.pt_BR
dc.publisher.departmentOutro(a)pt_BR
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PMID: 2705482.pt_BR
dc.type.degreeBachareladopt_BR
dc.publisher.courseMEDICINApt_BR
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