Estatura final (EF) em síndrome de Turner (ST): experiência de 76 casos acompanhados na Unidade de Endocrinologia Pediátrica do Hospital de Clínicas da Universidade Federal do Paraná

Fonteles, Ana Vládia Ramos; Dondoni, Roberta Savaris; Boguszewski, Margaret Cristina da Silva; Nesi-França, Suzana; Marques-Pereira, Rosana; Neto, Romolo Sandrini; Filho, Luiz de Lacerda

doi:10.1590/s0004-27302011000500004

“…Early diagnosis of TS is vital, as it also allows the identification of congenital and acquired anomalies, as well as the detection of cases with Y chromosome sequences in the karyotype, which is associated with gonadoblastoma, a tumor with high malignant potential that can be prevented through prophylactic gonadectomy, 11 besides allowing hormonal treatments with growth hormone (GH) and oxandrolone 12 and estrogen/progestogen 12 , 13 to respectively increase final height and accentuate secondary sexual characteristics at the adequate chronological age, preventing further damage to patient health. Therefore, an early and accurate diagnosis is important for a successful therapeutic approach.…”

Section: Introductionmentioning

confidence: 99%

“…O diagnóstico precoce da ST é imprescindível porque também permite a identificação de anomalias congênitas e adquiridas e possibilita detectar casos com sequências do cromossomo Y no cariótipo, o qual está associado ao gonadoblastoma, um tumor com alto potencial de transformação maligna que pode ser evitado com gonadectomia profilática, 11 além de permitir tratamentos hormonais com hormônio de crescimento (GH) e oxandrolona 12 e estrógeno/progestágeno 12 , 13 para, respectivamente, elevar a estatura final e acentuar os caracteres sexuais secundários em idade cronológica adequada. Assim evitam-se danos adicionais à saúde das pacientes.…”

Section: Introductionunclassified

Síndrome de Turner e polimorfismo genético: uma revisão sistemática

Marqui

¹

2015

Revista Paulista de Pediatria

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Objective:To present the main results of the literature on genetic polymorphisms in Turner syndrome and their association with the clinical signs and the etiology of this chromosomal disorder.Data sources:The review was conducted in the PubMed database without any time limit, using the terms Turner syndrome and genetic polymorphism. A total of 116 articles were found, and based on the established inclusion and exclusion criteria 17 were selected for the review.Data synthesis:The polymorphisms investigated in patients with Turner syndrome were associated with growth deficit, causing short stature, low bone mineral density, autoimmunity and cardiac abnormalities, which are frequently found in patients with Turner syndrome. The role of single nucleotide polymorphisms in the etiology of Turner syndrome, i.e., in chromosomal nondisjunction, was also confirmed.Conclusions:Genetic polymorphisms appear to be associated with Turner syndrome. However, in view of the small number of published studies and their contradictory findings, further studies in different populations are needed in order to clarify the role of genetic variants in the clinical signs and etiology of the Turner syndrome.

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Selenium Status in Patients with Turner Syndrome: a Biochemical Assessment Related with Body Composition

Pires

¹

,

Siviero-Miachon

²

,

Spinola-Castro

³

et al. 2016

Biol Trace Elem Res

1

0

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Studies about selenium status in patients with Turner syndrome (TS) are non-existent in the literature. The aim of this study was to evaluate selenium status in patients with TS, while considering the different ages of the studied population and the relation with body composition. In total, 33 patients with TS were evaluated and grouped according to their developmental stages (children, adolescents, and adults). Selenium concentrations in their plasma, erythrocytes, urine, and nails were determined by using hydride generation atomic absorption spectrometry and erythrocyte glutathione peroxidase activity were measured by using Randox commercial kits. Additionally, height, weight, body fat percentage, waist circumference, and waist-height ratio were measured to characterize the patients. No differences in the selenium concentrations in the plasma, erythrocyte, urine, and nails or in the glutathione peroxidase activity were observed among the age groups (p > 0.05). The evaluated selenium levels were less than the established normal ones. The patients with larger waist circumference, body fat percentage, body mass index, and waist-height ratio showed lower glutathione peroxidase enzyme activity (p = 0.023). The present study shows that most patients with TS are deficient in selenium and that those with a greater accumulation of body fat have a lower GPx activity.

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Turner syndrome and genetic polymorphism: a systematic review

Marqui

¹

2015

Revista Paulista de Pediatria (English Edition)

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Objective: To present the main results of the literature on genetic polymorphisms in Turner syndrome and their association with the clinical signs and the etiology of this chromosomal disorder. Data sources: The review was conducted in the PubMed database without any time limit, using the terms Turner syndrome and genetic polymorphism. A total of 116 articles were found, and based on the established inclusion and exclusion criteria 17 were selected for the review. Data synthesis: The polymorphisms investigated in patients with Turner syndrome were associated with growth deficit, causing short stature, low bone mineral density, autoimmunity and cardiac abnormalities, which are frequently found in patients with Turner syndrome. The role of single nucleotide polymorphisms in the etiology of Turner syndrome, i.e., in chromosomal nondisjunction, was also confirmed. Conclusions: Genetic polymorphisms appear to be associated with Turner syndrome. However, in view of the small number of published studies and their contradictory findings, further studies in different populations are needed in order to clarify the role of genetic variants in the clinical signs and etiology of the Turner syndrome. Síndrome de Turner; Polimorfismo genético; Síndrome de Turner e polimorfismo genético: uma revisão sistemática Resumo Objetivo: Apresentar os principais resultados dos estudos que investigaram polimorfismos genéticos em síndrome de Turner, bem como sua associação com alguns sinais clínicos e etiologia desse distúrbio cromossômico. DOI of original article: http://dx.ARTICLE IN PRESS +Model 2 Marqui ABT Hormônio do crescimento; Aneuploidia Fontes de dados: Revisão bibliográfica feita no PubMed, sem limite de período, com os seguintes termos: Turner syndrome and genetic polymorphism. Foram identificados 116 artigos e, de acordo com os critérios de inclusão e exclusão, 17 foram selecionados para leitura. Síntese dos dados: Os polimorfismos investigados em pacientes com síndrome de Turner estavam relacionados com déficit de crescimento, que causou baixa estatura, densidade mineral óssea baixa, autoimunidade e anomalias cardíacas, que podem estar presentes com frequências significativas nas pacientes. Também foi verificado o papel dos polimorfismos de único nucleotídeo (SNPs) na etiologia da síndrome de Turner, ou seja, na não disjunção cromossômica. Conclusões: Os polimorfismos genéticos parecem estar associados à síndrome de Turner. Entretanto, por conta dos poucos estudos publicados e dos achados contraditórios, pesquisas em diferentes populações são necessárias para esclarecer o papel dessas variantes genéticas para os sinais clínicos e a etiologia do distúrbio cromossômico.

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Estatura final (EF) em síndrome de Turner (ST): experiência de 76 casos acompanhados na Unidade de Endocrinologia Pediátrica do Hospital de Clínicas da Universidade Federal do Paraná

Cited by 3 publications

References 36 publications

Síndrome de Turner e polimorfismo genético: uma revisão sistemática

Síndrome de Turner e polimorfismo genético: uma revisão sistemática

Selenium Status in Patients with Turner Syndrome: a Biochemical Assessment Related with Body Composition

Turner syndrome and genetic polymorphism: a systematic review

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