Gonadal Function in Turner Syndrome
Autor(a) principal: | |
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Data de Publicação: | 2013 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | por 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/1316 |
Resumo: | Introduction: Turner syndrome is characterized by the absence, total or partial, of one X chromosome in females, being one of the most frequent chromosomal abnormalities. Diagnosis is made by karyotype. Turner syndrome manifestations include primary hypogonadism, before or after puberty (gonadal dysgenesis). The degree and extent of gonadal disfunction are variable.Objectives: We intended to assess clinical, karyotype, gonadal function and pelvic ultrasound characteristics in women with Turner syndrome.Material and Methods: Retrospective study of patients with Turner syndrome followed in Endocrinology and Human Reproduction Departments of Hospitais da Universidade de Coimbra - Centro Hospitalar e Universitário de Coimbra, E.P.E. We evaluated the entire sample and considered group 1 (with spontaneous puberty and menarche) and group 2 (without spontaneous puberty). Parameters assessed: age at initial study, puberty (Tanner stages), karyotype, FSH, pelvic ultrasound (initial and after puberty), diagnostic laparoscopy and pubertal induction. Statistical Program: SPSS (20.0).Results: Global sample: 79 patients, 14.7 ± 6.6 years. No pubertal signs in 57.1%; 67.1% with primary amenorrhea and 6.6% with secondary amenorrhea. Karyotype: X monosomy-37.2%, mosaicism-37.2%, X structural changes-25.6%. Median FSH of 59.5 mIU/ mL. Initial ultrasound: normal uterus 34.2%, atrophic uterus 65.8%; normal ovaries 21.6%, atrophic ovaries 78.4%, ovarian follicles in 5.1%. Post-puberty ultrasound: normal uterus 67.9%, atrophic uterus 32.1%; normal ovaries 36.4%, atrophic ovaries 63.6%. Laparoscopy was performed in 16 (20.3%) patients, confirming the sonographic findings. Only two women with induced puberty became pregnant: one spontaneously, interrupted; another by donated oocytes, normal outcome. Group 1 (with spontaneous puberty and menarche):20 (25.3%) patients, 16.1 ± 8.9 years. Tanner at baseline: M1-22.2%, M2-33.3%, M3-16.7%, M4-16.7%, M5-11.1%. Karyotype: mosaicism-65%, X structural changes-20%, X monosomy-15%. Median FSH of 7 mUI/mL. Initial ultrasound: normal uterus-72.2%,atrophic uterus 27.8%; normal ovaries 63.2%, atrophic ovaries 36.8%. Post-puberty ultrasound: normal uterus 100%; normal ovaries 72.7%, atrophic ovaries 27.3%. Group 2 (without spontaneous puberty): 59 (74.7%) patients, 14.0 ± 5.5 years. Tanner at baseline: M1-69.2%, M2-13.5%, M3-5.8%, M4-3.8%, M5-7.7%. Karyotype: X monosomy-43.9%, X structural changes-28.1% mosaicism-28.1%. Median FSH of 74 mUI/mL. Initial ultrasound: normal uterus 20.4%, atrophic uterus 79.6%; normal ovaries 7.4%, atrophic ovaries92.6%. Post-puberty ultrasound: normal uterus 60.0%, atrophic uterus 40.0%; normal ovaries 27.3%, atrophic ovaries 72.7%. Pubertal induction at 16.1 ± 4.1 years, with bone age of 12.7 ± 1.6 years. Groups 1 and 2 differ significantly in karyotype (p = 0.010), median FSH (p < 0.001), and uterine and ovarian dimensions (p < 0.001).Conclusions: Most patients had gonadal dysfunction and needed pubertal induction. Spontaneous puberty with menarche occurred in 25.3% of patients (predominantly mosaics). 43.9% of patients with pubertal induction had X monosomy. These patients fertility is compromised and, in some cases, we should refer to assisted reproductive specialist for pregnancy or fertility preservation. |
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Gonadal Function in Turner SyndromeFunção Gonadal na Síndrome de TurnerIntroduction: Turner syndrome is characterized by the absence, total or partial, of one X chromosome in females, being one of the most frequent chromosomal abnormalities. Diagnosis is made by karyotype. Turner syndrome manifestations include primary hypogonadism, before or after puberty (gonadal dysgenesis). The degree and extent of gonadal disfunction are variable.Objectives: We intended to assess clinical, karyotype, gonadal function and pelvic ultrasound characteristics in women with Turner syndrome.Material and Methods: Retrospective study of patients with Turner syndrome followed in Endocrinology and Human Reproduction Departments of Hospitais da Universidade de Coimbra - Centro Hospitalar e Universitário de Coimbra, E.P.E. We evaluated the entire sample and considered group 1 (with spontaneous puberty and menarche) and group 2 (without spontaneous puberty). Parameters assessed: age at initial study, puberty (Tanner stages), karyotype, FSH, pelvic ultrasound (initial and after puberty), diagnostic laparoscopy and pubertal induction. Statistical Program: SPSS (20.0).Results: Global sample: 79 patients, 14.7 ± 6.6 years. No pubertal signs in 57.1%; 67.1% with primary amenorrhea and 6.6% with secondary amenorrhea. Karyotype: X monosomy-37.2%, mosaicism-37.2%, X structural changes-25.6%. Median FSH of 59.5 mIU/ mL. Initial ultrasound: normal uterus 34.2%, atrophic uterus 65.8%; normal ovaries 21.6%, atrophic ovaries 78.4%, ovarian follicles in 5.1%. Post-puberty ultrasound: normal uterus 67.9%, atrophic uterus 32.1%; normal ovaries 36.4%, atrophic ovaries 63.6%. Laparoscopy was performed in 16 (20.3%) patients, confirming the sonographic findings. Only two women with induced puberty became pregnant: one spontaneously, interrupted; another by donated oocytes, normal outcome. Group 1 (with spontaneous puberty and menarche):20 (25.3%) patients, 16.1 ± 8.9 years. Tanner at baseline: M1-22.2%, M2-33.3%, M3-16.7%, M4-16.7%, M5-11.1%. Karyotype: mosaicism-65%, X structural changes-20%, X monosomy-15%. Median FSH of 7 mUI/mL. Initial ultrasound: normal uterus-72.2%,atrophic uterus 27.8%; normal ovaries 63.2%, atrophic ovaries 36.8%. Post-puberty ultrasound: normal uterus 100%; normal ovaries 72.7%, atrophic ovaries 27.3%. Group 2 (without spontaneous puberty): 59 (74.7%) patients, 14.0 ± 5.5 years. Tanner at baseline: M1-69.2%, M2-13.5%, M3-5.8%, M4-3.8%, M5-7.7%. Karyotype: X monosomy-43.9%, X structural changes-28.1% mosaicism-28.1%. Median FSH of 74 mUI/mL. Initial ultrasound: normal uterus 20.4%, atrophic uterus 79.6%; normal ovaries 7.4%, atrophic ovaries92.6%. Post-puberty ultrasound: normal uterus 60.0%, atrophic uterus 40.0%; normal ovaries 27.3%, atrophic ovaries 72.7%. Pubertal induction at 16.1 ± 4.1 years, with bone age of 12.7 ± 1.6 years. Groups 1 and 2 differ significantly in karyotype (p = 0.010), median FSH (p < 0.001), and uterine and ovarian dimensions (p < 0.001).Conclusions: Most patients had gonadal dysfunction and needed pubertal induction. Spontaneous puberty with menarche occurred in 25.3% of patients (predominantly mosaics). 43.9% of patients with pubertal induction had X monosomy. These patients fertility is compromised and, in some cases, we should refer to assisted reproductive specialist for pregnancy or fertility preservation.Introdução: A síndrome de Turner caracteriza-se pela ausência, parcial ou total, de um cromossoma X no sexo feminino, sendo uma das cromossomopatias mais frequentes. O diagnóstico é realizado através do cariótipo e as suas manifestações incluem o hipogonadismo primário, antes ou após a puberdade (disgenesia gonadal). O grau de disfunção e a extensão dos defeitos gonadais são variáveis.Objectivos: Pretendeu-se avaliar a clínica, cariótipo, função gonadal e características ecográficas do útero e ovários de mulheres com síndrome de Turner.Material e Métodos: Estudo retrospectivo de doentes com síndrome de Turner, seguidas nos Serviços de Endocrinologia ou Reprodução Humana dos Hospitais da Universidade de Coimbra - Centro Hospitalar e Universitário de Coimbra, E.P.E. Avaliou-se toda a amostra e consideraram-se o grupo 1 (com puberdade e menarca espontânea) e grupo 2 (sem puberdade espontânea). Parâmetros avaliados: idade do estudo inicial, puberdade, cariótipo, FSH, ecografia pélvica inicial e pós-pubertária, celioscopia e indução pubertária. Estudo estatístico: SPSS (20.0).Resultados: Amostra: 79 doentes, 14,7 ± 6,6 anos. Ausência de sinais pubertários em 57,1%, amenorreia primária 67,1% e secundária 6,6%. Cariótipo: monossomia X-37,2%, mosaico-37,2%, alterações estruturais de X-25,6%. Mediana da FSH 59,5mUI/mL. Ecografia inicial: útero normal-34,2%, atrófico-65,8%; ovários normais-21,6%, atróficos-78,4%, com folículos-5,1%. Ecografia pós-pubertária: útero normal-67,9%, atrófico-32,1%; ovários normais-36,4%, atróficos-63,6%. A laparoscopia realizada em 16 (20,3%) doentes confirmou os achados ecográficos. Duas mulheres com puberdade induzida engravidaram: uma espontaneamente, sem evolução; outra pordoação de ovócitos, evolutiva. Grupo 1 (com puberdade e menarca espontânea): 20 (25,3%) doentes, 16,1 ± 8,9 anos. Puberdade na avaliação inicial: M1-22,2%, M2-33,3%, M3-16,7%, M4-16,7%, M5-11,1%. Cariótipo: mosaico-65%, alterações estruturais de X-20%, monossomia X-15%. Mediana da FSH 7 mUI/mL. Ecografia inicial: útero normal-72,2%, atrófico-27,8%; ovários normais-63,2%, atróficos-36,8%. Ecografia pós-pubertária: útero normal-100%; ovários normais-72,7%, atróficos-27,3%. Grupo 2 (sem puberdade espontânea): 59 (74,7%) doentes, 14,0 ± 5,5 anos. Puberdade na avaliação inicial: M1-69,2%, M2-13,5%, M3-5,8%, M4-3,8%, M5-7,7%. Cariótipo: monossomia X-43,9%, alterações estruturais de X-28,1%, mosaico-28,1%. Mediana da FSH 74 mUI/mL. Ecografiainicial: útero normal-20,4%, atrófico-79,6%; ovários normais-7,4%, atróficos-92,6%. Ecografia pós-pubertária: útero normal-60,0%, atrófico-40,0%; ovários normais-27,3%, atróficos-72,7%. Indução pubertária aos 16,1 ± 4,1 anos com idade óssea 12,7 ± 1,6 anos. Os grupos 1 e 2 diferiram significativamente no cariótipo (p = 0,010), FSH (p < 0,001), dimensões do útero e ovários (p < 0,001).Conclusões: A maioria das doentes apresentou disfunção gonadal com necessidade de indução pubertária. Ocorreu puberdade e menarca espontâneas em 25,3% das doentes (predomínio de mosaicos). Das doentes com indução pubertária, 43,9% apresentavam monossomia X. A fertilidade destas doentes está comprometida, podendo nalgumas situações recorrer-se a técnicas de procriação medicamente assistida para obter uma gravidez ou preservar a fertilidade.Ordem dos Médicos2013-12-20info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfapplication/pdfapplication/mswordapplication/mswordhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1316oai:ojs.www.actamedicaportuguesa.com:article/1316Acta Médica Portuguesa; Vol. 26 No. 6 (2013): November-December; 655-663Acta Médica Portuguesa; Vol. 26 N.º 6 (2013): Novembro-Dezembro; 655-6631646-07580870-399Xreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporenghttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1316https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1316/3806https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1316/3907https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1316/6840https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1316/6846Alves, MárciaBastos, MargaridaAlmeida Santos, TeresaCarrilho, Franciscoinfo:eu-repo/semantics/openAccess2022-12-20T10:57:45Zoai:ojs.www.actamedicaportuguesa.com:article/1316Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:17:04.731220Repositório 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 |
Gonadal Function in Turner Syndrome Função Gonadal na Síndrome de Turner |
title |
Gonadal Function in Turner Syndrome |
spellingShingle |
Gonadal Function in Turner Syndrome Alves, Márcia |
title_short |
Gonadal Function in Turner Syndrome |
title_full |
Gonadal Function in Turner Syndrome |
title_fullStr |
Gonadal Function in Turner Syndrome |
title_full_unstemmed |
Gonadal Function in Turner Syndrome |
title_sort |
Gonadal Function in Turner Syndrome |
author |
Alves, Márcia |
author_facet |
Alves, Márcia Bastos, Margarida Almeida Santos, Teresa Carrilho, Francisco |
author_role |
author |
author2 |
Bastos, Margarida Almeida Santos, Teresa Carrilho, Francisco |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Alves, Márcia Bastos, Margarida Almeida Santos, Teresa Carrilho, Francisco |
description |
Introduction: Turner syndrome is characterized by the absence, total or partial, of one X chromosome in females, being one of the most frequent chromosomal abnormalities. Diagnosis is made by karyotype. Turner syndrome manifestations include primary hypogonadism, before or after puberty (gonadal dysgenesis). The degree and extent of gonadal disfunction are variable.Objectives: We intended to assess clinical, karyotype, gonadal function and pelvic ultrasound characteristics in women with Turner syndrome.Material and Methods: Retrospective study of patients with Turner syndrome followed in Endocrinology and Human Reproduction Departments of Hospitais da Universidade de Coimbra - Centro Hospitalar e Universitário de Coimbra, E.P.E. We evaluated the entire sample and considered group 1 (with spontaneous puberty and menarche) and group 2 (without spontaneous puberty). Parameters assessed: age at initial study, puberty (Tanner stages), karyotype, FSH, pelvic ultrasound (initial and after puberty), diagnostic laparoscopy and pubertal induction. Statistical Program: SPSS (20.0).Results: Global sample: 79 patients, 14.7 ± 6.6 years. No pubertal signs in 57.1%; 67.1% with primary amenorrhea and 6.6% with secondary amenorrhea. Karyotype: X monosomy-37.2%, mosaicism-37.2%, X structural changes-25.6%. Median FSH of 59.5 mIU/ mL. Initial ultrasound: normal uterus 34.2%, atrophic uterus 65.8%; normal ovaries 21.6%, atrophic ovaries 78.4%, ovarian follicles in 5.1%. Post-puberty ultrasound: normal uterus 67.9%, atrophic uterus 32.1%; normal ovaries 36.4%, atrophic ovaries 63.6%. Laparoscopy was performed in 16 (20.3%) patients, confirming the sonographic findings. Only two women with induced puberty became pregnant: one spontaneously, interrupted; another by donated oocytes, normal outcome. Group 1 (with spontaneous puberty and menarche):20 (25.3%) patients, 16.1 ± 8.9 years. Tanner at baseline: M1-22.2%, M2-33.3%, M3-16.7%, M4-16.7%, M5-11.1%. Karyotype: mosaicism-65%, X structural changes-20%, X monosomy-15%. Median FSH of 7 mUI/mL. Initial ultrasound: normal uterus-72.2%,atrophic uterus 27.8%; normal ovaries 63.2%, atrophic ovaries 36.8%. Post-puberty ultrasound: normal uterus 100%; normal ovaries 72.7%, atrophic ovaries 27.3%. Group 2 (without spontaneous puberty): 59 (74.7%) patients, 14.0 ± 5.5 years. Tanner at baseline: M1-69.2%, M2-13.5%, M3-5.8%, M4-3.8%, M5-7.7%. Karyotype: X monosomy-43.9%, X structural changes-28.1% mosaicism-28.1%. Median FSH of 74 mUI/mL. Initial ultrasound: normal uterus 20.4%, atrophic uterus 79.6%; normal ovaries 7.4%, atrophic ovaries92.6%. Post-puberty ultrasound: normal uterus 60.0%, atrophic uterus 40.0%; normal ovaries 27.3%, atrophic ovaries 72.7%. Pubertal induction at 16.1 ± 4.1 years, with bone age of 12.7 ± 1.6 years. Groups 1 and 2 differ significantly in karyotype (p = 0.010), median FSH (p < 0.001), and uterine and ovarian dimensions (p < 0.001).Conclusions: Most patients had gonadal dysfunction and needed pubertal induction. Spontaneous puberty with menarche occurred in 25.3% of patients (predominantly mosaics). 43.9% of patients with pubertal induction had X monosomy. These patients fertility is compromised and, in some cases, we should refer to assisted reproductive specialist for pregnancy or fertility preservation. |
publishDate |
2013 |
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2013-12-20 |
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1316 oai:ojs.www.actamedicaportuguesa.com:article/1316 |
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1316 |
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oai:ojs.www.actamedicaportuguesa.com:article/1316 |
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1316 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1316/3806 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1316/3907 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1316/6840 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1316/6846 |
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Ordem dos Médicos |
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Ordem dos Médicos |
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Acta Médica Portuguesa; Vol. 26 No. 6 (2013): November-December; 655-663 Acta Médica Portuguesa; Vol. 26 N.º 6 (2013): Novembro-Dezembro; 655-663 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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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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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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