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SYSTEMATIC REVIEW article

Front. Endocrinol.
Sec. Pediatric Endocrinology
Volume 15 - 2024 | doi: 10.3389/fendo.2024.1477227
This article is part of the Research Topic Insights in Pediatric Endocrinology: 2024 View all 11 articles

Endocrine Disorders in Rett Syndrome: A Systematic Review of the Literature

Provisionally accepted
Giorgia Pepe Giorgia Pepe 1Roberto Coco Roberto Coco 1Domenico Corica Domenico Corica 1Giovanni Luppino Giovanni Luppino 1Letteria Anna Morabito Letteria Anna Morabito 1Cecilia Lugarà Cecilia Lugarà 1Tiziana Abbate Tiziana Abbate 1Giuseppina Zirilli Giuseppina Zirilli 1Tommaso Aversa Tommaso Aversa 1*Stefano Stagi Stefano Stagi 2Malgorzata G. Wasniewska Malgorzata G. Wasniewska 1
  • 1 Unit of Pathology, Department of Human Pathology in Adulthood and Childhood Gaetano Barresi, University of Messina, Messina, Sicily, Italy
  • 2 health sciences department, Anna Meyer Children's University Hospital, University of Florence, Florence, Tuscany, Italy

The final, formatted version of the article will be published soon.

    Background: Rett syndrome (RTT) is an X-linked progressive neurodevelopmental disorder that involves mainly girls and is the second most frequent cause of genetic intellectual disability. RTT leads to neurological regression between 6 and 18 months of life and could be associated with a variable neurological impairment. However, RTT affects not only neurological function but also wide aspects of non-neurological organs. Recent data showed that the endocrine system is often involved in RTT patients, including disorders of growth, bone health, thyroid, puberty onset, and weight abnormalities However, systematic data on endocrinopathies in RTT are scarce and limited.Objective: This review aims to analyze the prevalence and type of endocrine comorbidities in RTT population, to allow a precocious diagnosis and appropriate endocrinological management.Methods: Systematic research was carried out from January 2000 to March 2024 through MEDLINE via PubMed, Scopus, and the Cochrane Library.Results: After the selection phase, a total of 22 studies (1090 screened) met the inclusion criteria and were reported in the present review. Five studies were observational-retrospective, four were crosssectional and case report or series, three were survey, prospective, and case-control, and finally one study for descriptive-transversal and longitudinal population-based study. The sample population consisted of multiethnic groups or single ethnic groups. The main endocrinopathies reported were malnutrition, bone alterations, and alterations of puberty onset.Our analysis shows that endocrinopathies are not rare in RTT patients. Therefore, in the context of a multidisciplinary approach, accurate screening and monitoring for endocrinopathies should be recommended in all RTT patients, to improve clinical practice, healthcare management, and, finally, patients' quality of life.

    Keywords: Rett Syndrome, endocrinopathy, MECP2 deletion, CDKL5 deletion, Epilepsy

    Received: 07 Aug 2024; Accepted: 15 Oct 2024.

    Copyright: © 2024 Pepe, Coco, Corica, Luppino, Morabito, Lugarà, Abbate, Zirilli, Aversa, Stagi and Wasniewska. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Tommaso Aversa, Unit of Pathology, Department of Human Pathology in Adulthood and Childhood Gaetano Barresi, University of Messina, Messina, 98122, Sicily, Italy

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