Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service

cross-sectional retrospective study

Autores

Palavras-chave:

Turner syndrome, Genetic diseases, inborn, Karyotype, Diagnostic techniques and procedures, X chromosome

Resumo

BACKGROUND: Turner syndrome (TS) is a rare genetic disease. Understanding its clinical findings contributes to better management of clinical conditions. OBJECTIVE: To investigate the clinical and karyotypic characteristics of patients diagnosed with TS at two reference services for clinical genetics in southern Brazil. DESIGN AND SETTING: Retrospective cross-sectional study conducted in two clinical genetics services in Porto Alegre (RS), Brazil. METHODS: The sample consisted of 59 patients with TS diagnosed from 1993 to 2019. A review of their medical records was performed and a standard protocol was filled out. RESULTS: The average age of the patients at diagnosis was 15.9 years, and 40.7% were over 13 years old. The largest proportion of them (42.4%) had been referred from an endocrinology department and their constitution was 45,X (40.7%). The most common clinical findings were short stature (85.7%), hypoplastic/hyperconvex nails (61.2%), low posterior hairline (52.1%) and cubitus valgus (45.8%). There was no difference regarding the presence of short stature (P = 0.5943), number of dysmorphia (P = 0.143), anatomical regions affected and malformations identified through imaging examinations (P = 1.0000), regarding the presence or absence of 45,X constitution. Only 6% of the patients had used growth hormone and 43%, estrogen. CONCLUSION: We found that, in general, patients with TS were being diagnosed late. This has important implications for their treatment. In addition, only a small proportion of the patients were undergoing further examination or evaluation, which appeared to be leading to underdiagnosis of many abnormalities.

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Biografia do Autor

Maurício Rouvel Nunes, Postgraduate Program on Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre

BSc. Master’s Student, Postgraduate Program on Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre (RS), Brazil.

Tiago Godói Pereira, Postgraduate Program on Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre

Undergraduate Student, Department of Clinical Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre (RS), Brazil.

Henry Victor Dutra Correia, Postgraduate Program on Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre

Undergraduate Student, Department of Health Sciences, Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS), Porto Alegre (RS), Brazil.

Simone Travi Canabarro, Postgraduate Program on Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre

PhD. Professor, Department of Nursing, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre (RS), Brazil.

Ana Paula Vanz, Postgraduate Program on Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre

PhD. Professor, Department of Nursing, Faculdades Integradas de Taquara, Taquara (RS), Brazil.

Paulo Ricardo Gazzola Zen, Postgraduate Program on Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre

PhD. Professor, Departments of Clinical Medicine and Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre (RS), Brazil

Rafael Fabiano Machado Rosa, Postgraduate Program on Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre

PhD. Professor, Departments of Clinical Medicine and Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre (RS), Brazil.

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Publicado

2021-09-02

Como Citar

1.
Nunes MR, Pereira TG, Correia HVD, Canabarro ST, Vanz AP, Zen PRG, Rosa RFM. Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study. Sao Paulo Med J [Internet]. 2º de setembro de 2021 [citado 12º de março de 2025];139(5):435-42. Disponível em: https://periodicosapm.emnuvens.com.br/spmj/article/view/519

Edição

v. 139 n. 5 (2021)

Seção

Artigo Original

Licença

Creative Commons License
Este trabalho está licenciado sob uma licença Creative Commons Attribution 4.0 International License.