Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490 |
Resumo: | Introduction: Chromosome abnormalities contribute to about 10% of cases of premature ovarian insufficiency. Most are associated with X chromosome. Fragile mental retardation 1 (FMR1) gene premutation has an estimated prevalence of 1% - 7% in sporadic cases and up to 13% in familial cases. Our aim was to describe the clinical characteristics, cytogenetic and FMR1 testing of a Portuguese population with premature ovarian insufficiency.Material and Methods: Women diagnosed with premature ovarian insufficiency in a Portuguese tertiary centre were retrospectivelyanalysed. Data were retrieved from electronic medical records including clinical characteristics, cytogenetic and FMR1 testing. The main outcome measures were the prevalence of chromosome abnormalities and FMR1 premutation in a Portuguese population with premature ovarian insufficiency.Results: Ninety-four patients were included, with a median age at menopause of 36 years. The prevalence of chromosome abnormalities was 16.5% (14/85) and most were X chromosome related (78.6%). The prevalence of FMR1 premutation was 6.7% (6/90). The prevalence of karyotypic abnormalities or FMR1 premutation did not differ significantly between familial and sporadic cases. Neither chromosome abnormalities nor FMR1 premutation influenced age at menopause or follicle stimulating hormone levels at diagnosis in premature ovarian insufficiency patients.Discussion: This is the first study describing the clinical characteristics and both cytogenetic and FMR1 testing in a Portuguese population with premature ovarian insufficiency. The rate of chromosome abnormalities in our sample was higher than in other populations, while the prevalence of FMR1 premutation was similar to previous reports.Conclusion: Our results underline the importance of genetic screening in premature ovarian insufficiency patients in both etiological study and genetic counselling. |
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Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiencyPrevalência de Anomalias Citogenéticas e da Pré-Mutação do Gene FMR1 numa População Portuguesa com Insuficiência Ovárica PrematuraChromosome AbnormalitiesCytogenetic AnalysisFragile X Mental Retardation ProteinPremature Ovarian InsufficiencyAnálise CitogenéticaAnomalias CromossómicasInsuficiência Ovárica PrematuraProteína do X Frágil de Retardo MentalIntroduction: Chromosome abnormalities contribute to about 10% of cases of premature ovarian insufficiency. Most are associated with X chromosome. Fragile mental retardation 1 (FMR1) gene premutation has an estimated prevalence of 1% - 7% in sporadic cases and up to 13% in familial cases. Our aim was to describe the clinical characteristics, cytogenetic and FMR1 testing of a Portuguese population with premature ovarian insufficiency.Material and Methods: Women diagnosed with premature ovarian insufficiency in a Portuguese tertiary centre were retrospectivelyanalysed. Data were retrieved from electronic medical records including clinical characteristics, cytogenetic and FMR1 testing. The main outcome measures were the prevalence of chromosome abnormalities and FMR1 premutation in a Portuguese population with premature ovarian insufficiency.Results: Ninety-four patients were included, with a median age at menopause of 36 years. The prevalence of chromosome abnormalities was 16.5% (14/85) and most were X chromosome related (78.6%). The prevalence of FMR1 premutation was 6.7% (6/90). The prevalence of karyotypic abnormalities or FMR1 premutation did not differ significantly between familial and sporadic cases. Neither chromosome abnormalities nor FMR1 premutation influenced age at menopause or follicle stimulating hormone levels at diagnosis in premature ovarian insufficiency patients.Discussion: This is the first study describing the clinical characteristics and both cytogenetic and FMR1 testing in a Portuguese population with premature ovarian insufficiency. The rate of chromosome abnormalities in our sample was higher than in other populations, while the prevalence of FMR1 premutation was similar to previous reports.Conclusion: Our results underline the importance of genetic screening in premature ovarian insufficiency patients in both etiological study and genetic counselling.Introdução: As anomalias cromossómicas contribuem para 10% dos casos de insuficiência ovárica prematura estando maioritariamente associadas ao cromossoma X. A pré-mutação do gene fragile mental retardation 1 (FMR1) tem uma prevalência estimada de 1% - 7% nos casos esporádicos e até 13% nos casos familiares. O nosso objetivo foi descrever as características clínicas e a análise citogenética e do gene FMR1 de uma população Portuguesa com insuficiência ovárica prematura.Material e Métodos: Análise retrospetiva das mulheres com o diagnóstico de insuficiência ovárica prematura vigiadas num hospital terciário Português. Recolha de dados através do processo médico eletrónico incluindo características clínicas, análise citogenética e análise do gene FMR1. Os desfechos principais foram a prevalência de anomalias cromossómicas e da pré-mutação FMR1 numa população Portuguesa com insuficiência ovárica prematura.Resultados: Foram incluídas 94 doentes, com uma mediana de idade de menopausa de 36 anos. A prevalência de anomalias cromossómicas foi 16,5% (14/85) e a maioria estavam relacionadas com o cromossoma X (78,6%, n = 11). A prevalência da pré-mutação FMR1 foi de 6,7% (6/90). A prevalência de anomalias cromossómicas ou pré-mutação FMR1 não diferiu entre casos esporádicos e familiares. Nem as anomalias cromossómicas nem a pré-mutação FMR1 influenciaram a idade de menopausa ou os níveis da hormona estimulante dos folículos capilares aquando do diagnóstico na população com insuficiência ovárica prematura.Discussão: Este é o primeiro estudo a descrever as características clínicas e a análise citogenética e do gene FMR1 numa população Portuguesa com insuficiência ovárica prematura. A prevalência de anomalias cromossómicas na nossa amostra foi superior à descrita para outras populações, enquanto a prevalência da pré-mutação FMR1 foi semelhante à descrita em estudos anteriores.Conclusão: Os nossos resultados sublinham a importância do rastreio genético em doentes com insuficiência ovárica prematura, quer no estudo etiológico, quer no aconselhamento genético.Ordem dos Médicos2021-08-31info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfapplication/vnd.openxmlformats-officedocument.wordprocessingml.documentapplication/vnd.openxmlformats-officedocument.wordprocessingml.documentapplication/pdfapplication/vnd.openxmlformats-officedocument.wordprocessingml.documentapplication/vnd.openxmlformats-officedocument.wordprocessingml.documentapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490oai:ojs.www.actamedicaportuguesa.com:article/13490Acta Médica Portuguesa; Vol. 34 No. 9 (2021): September; 580-585Acta Médica Portuguesa; Vol. 34 N.º 9 (2021): Setembro; 580-5851646-07580870-399Xreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/6180https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/12545https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/12546https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/12547https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/12895https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/12896https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/12897https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/12930https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/12931https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/12932https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/12933Direitos de Autor (c) 2020 Acta Médica Portuguesainfo:eu-repo/semantics/openAccessNeves, Ana RaquelPais, Ana SofiaFerreira, Susana IsabelRamos, VeraCarvalho, Maria JoãoEstevinho, AlexandraMatoso, EuniceGeraldes, FernandaMarques Carreira, IsabelÁguas, Fernanda2022-12-20T11:06:54Zoai:ojs.www.actamedicaportuguesa.com:article/13490Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:20:21.510894Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency Prevalência de Anomalias Citogenéticas e da Pré-Mutação do Gene FMR1 numa População Portuguesa com Insuficiência Ovárica Prematura |
title |
Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency |
spellingShingle |
Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency Neves, Ana Raquel Chromosome Abnormalities Cytogenetic Analysis Fragile X Mental Retardation Protein Premature Ovarian Insufficiency Análise Citogenética Anomalias Cromossómicas Insuficiência Ovárica Prematura Proteína do X Frágil de Retardo Mental |
title_short |
Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency |
title_full |
Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency |
title_fullStr |
Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency |
title_full_unstemmed |
Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency |
title_sort |
Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency |
author |
Neves, Ana Raquel |
author_facet |
Neves, Ana Raquel Pais, Ana Sofia Ferreira, Susana Isabel Ramos, Vera Carvalho, Maria João Estevinho, Alexandra Matoso, Eunice Geraldes, Fernanda Marques Carreira, Isabel Águas, Fernanda |
author_role |
author |
author2 |
Pais, Ana Sofia Ferreira, Susana Isabel Ramos, Vera Carvalho, Maria João Estevinho, Alexandra Matoso, Eunice Geraldes, Fernanda Marques Carreira, Isabel Águas, Fernanda |
author2_role |
author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Neves, Ana Raquel Pais, Ana Sofia Ferreira, Susana Isabel Ramos, Vera Carvalho, Maria João Estevinho, Alexandra Matoso, Eunice Geraldes, Fernanda Marques Carreira, Isabel Águas, Fernanda |
dc.subject.por.fl_str_mv |
Chromosome Abnormalities Cytogenetic Analysis Fragile X Mental Retardation Protein Premature Ovarian Insufficiency Análise Citogenética Anomalias Cromossómicas Insuficiência Ovárica Prematura Proteína do X Frágil de Retardo Mental |
topic |
Chromosome Abnormalities Cytogenetic Analysis Fragile X Mental Retardation Protein Premature Ovarian Insufficiency Análise Citogenética Anomalias Cromossómicas Insuficiência Ovárica Prematura Proteína do X Frágil de Retardo Mental |
description |
Introduction: Chromosome abnormalities contribute to about 10% of cases of premature ovarian insufficiency. Most are associated with X chromosome. Fragile mental retardation 1 (FMR1) gene premutation has an estimated prevalence of 1% - 7% in sporadic cases and up to 13% in familial cases. Our aim was to describe the clinical characteristics, cytogenetic and FMR1 testing of a Portuguese population with premature ovarian insufficiency.Material and Methods: Women diagnosed with premature ovarian insufficiency in a Portuguese tertiary centre were retrospectivelyanalysed. Data were retrieved from electronic medical records including clinical characteristics, cytogenetic and FMR1 testing. The main outcome measures were the prevalence of chromosome abnormalities and FMR1 premutation in a Portuguese population with premature ovarian insufficiency.Results: Ninety-four patients were included, with a median age at menopause of 36 years. The prevalence of chromosome abnormalities was 16.5% (14/85) and most were X chromosome related (78.6%). The prevalence of FMR1 premutation was 6.7% (6/90). The prevalence of karyotypic abnormalities or FMR1 premutation did not differ significantly between familial and sporadic cases. Neither chromosome abnormalities nor FMR1 premutation influenced age at menopause or follicle stimulating hormone levels at diagnosis in premature ovarian insufficiency patients.Discussion: This is the first study describing the clinical characteristics and both cytogenetic and FMR1 testing in a Portuguese population with premature ovarian insufficiency. The rate of chromosome abnormalities in our sample was higher than in other populations, while the prevalence of FMR1 premutation was similar to previous reports.Conclusion: Our results underline the importance of genetic screening in premature ovarian insufficiency patients in both etiological study and genetic counselling. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-08-31 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490 oai:ojs.www.actamedicaportuguesa.com:article/13490 |
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490 |
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oai:ojs.www.actamedicaportuguesa.com:article/13490 |
dc.language.iso.fl_str_mv |
eng |
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eng |
dc.relation.none.fl_str_mv |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/6180 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/12545 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/12546 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/12547 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/12895 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/12896 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/12897 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/12930 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/12931 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/12932 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13490/12933 |
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Direitos de Autor (c) 2020 Acta Médica Portuguesa info:eu-repo/semantics/openAccess |
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Direitos de Autor (c) 2020 Acta Médica Portuguesa |
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Ordem dos Médicos |
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Ordem dos Médicos |
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Acta Médica Portuguesa; Vol. 34 No. 9 (2021): September; 580-585 Acta Médica Portuguesa; Vol. 34 N.º 9 (2021): Setembro; 580-585 1646-0758 0870-399X reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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