Prevalence of Endocrinopathies in a Cohort of Patients with Rett Syndrome: A Two-Center Observational Study.

doi:10.3390/genes15030287

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Article

Prevalence of Endocrinopathies in a Cohort of Patients with Rett Syndrome: A Two-Center Observational Study.

Genes - 24 Feb 2024

Pepe Giorgia, Coco Roberto, Corica Domenico, Di Rosa Gabriella, Bossowski Filip, Skorupska Magdalena, Aversa Tommaso, Stagi Stefano, Wasniewska Malgorzata

Abstract excerpt

Systematic data on endocrinopathies in Rett syndrome (RTT) patients remain limited and inconclusive. The aim of this retrospective observational two-center study was to assess the prevalence of endocrinopathies in a pediatric population of RTT patients. A total of 51 Caucasian patients (47 girls, 4 boys) with a genetically confirmed diagnosis of RTT were enrolled (mean age 9.65 ± 5.9 years). The patients were...

Topics

Adolescent
Child
Child, Preschool
Female
Humans
Male
Endocrine System Diseases
Mutation
Prevalence
Protein Serine-Threonine Kinases
Retrospective Studies
Rett Syndrome

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Open in PubMed Open full text

Identifiers

PMID: 38540345
DOI: 10.3390/genes15030287
PMCID: PMC10970698

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