Turner syndrome and neuropsychological abnormalities: a review and case series

• Published in: Revista Paulista de Pediatria Vol. 43; p. e2023199
• Main Authors: Guaraná, Bruna Baierle, Nunes, Marcela Rodrigues, Muniz, Victória Feitosa, Diniz, Bruna Lixinski, Nunes, Maurício Rouvel, Böttcher, Ana Kalise, Rosa, Rafael Fabiano Machado, Mergener, Rafaella, Zen, Paulo Ricardo Gazzola
• Format: Journal Article
• Language: English
• Published: Brazil Sociedade de Pediatria de São Paulo 01-01-2025
• Subjects: Adolescent; Brazil - epidemiology; Child; Child, Preschool; Female; Genetic Association Studies; Humans; Intellectual disability; Intellectual Disability - epidemiology; Intellectual Disability - genetics; Intellectual Disability - psychology; Learning disabilities; Monosomy X; Neurodevelopmental delay; Original; Retrospective Studies; Turner syndrome; Turner Syndrome - complications; Turner Syndrome - genetics; Turner Syndrome - psychology; Brazil
• ISSN: 0103-0582; 1984-0462
• DOI: 10.1590/1984-0462/2025/43/2023199

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).
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.
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.
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.