Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency

Detalhes bibliográficos
Autor(a) principal: Neves, Ana Raquel
Data de Publicação: 2021
Outros Autores: Pais, Ana Sofia, Ferreira, Susana Isabel, Ramos, Vera, Carvalho, Maria João, Estevinho, Alexandra, Matoso, Eunice, Geraldes, Fernanda, Marques Carreira, Isabel, Águas, Fernanda
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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spelling 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
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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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dc.publisher.none.fl_str_mv Ordem dos Médicos
publisher.none.fl_str_mv Ordem dos Médicos
dc.source.none.fl_str_mv 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
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