| Autor: |
Bruna Baierle Guaraná, Marcela Rodrigues Nunes, Victória Feitosa Muniz, Bruna Lixinski Diniz, Maurício Rouvel Nunes, Ana Kalise Böttcher, Rafael Fabiano Machado Rosa, Rafaella Mergener, Paulo Ricardo Gazzola Zen |
| Jazyk: |
English<br />Spanish; Castilian<br />Portuguese |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Revista Paulista de Pediatria, Vol 43 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
1984-0462 |
| DOI: |
10.1590/1984-0462/2025/43/2023199 |
| Popis: |
ABSTRACT Objective: The objective of this study was to establish the genotype-phenotype correlation between karyotype results and the neurological and psychiatric alterations presented in patients with Turner syndrome (TS). Methods: A retrospective study was conducted on the medical records of 10/140 patients with TS and neurophysiological abnormalities seen at a university hospital in southern Brazil. In addition, a literature review spanning the period from January 1, 2012 to January 1, 2023 was carried out using the PubMed and Virtual Health Library databases. Results: Our study showed a potential correlation between neurological and psychiatric alterations in patients with TS. These findings are in accordance with those described in literature such as a high prevalence of learning or intellectual disabilities. However, our sample found more seizure episodes than those reported in other studies. Conclusions: The correlation established could be due to X chromosome dose–effect, as the review suggests that sex chromosome number and hormonal development can be associated with verbal, social, and cognitive skills or impairments. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
