Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Oct 31:15:1477227.
doi: 10.3389/fendo.2024.1477227. eCollection 2024.

Endocrine disorders in Rett syndrome: a systematic review of the literature

Giorgia Pepe #  1 , Roberto Coco #  1 , Domenico Corica  1 , Giovanni Luppino  1 , Letteria Anna Morabito  1 , Cecilia Lugarà  1 , Tiziana Abbate  1 , Giuseppina Zirilli  1 , Tommaso Aversa  1 , Stefano Stagi  2 , Malgorzata Wasniewska  1
Affiliations

Endocrine disorders in Rett syndrome: a systematic review of the literature

Giorgia Pepe et al. Front Endocrinol (Lausanne). .

Abstract

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 cross-sectional 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.

Conclusions: 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: CDKL5 deletion; MECP2 deletion; Rett syndrome; endocrinopathy; epilepsy.

PubMed Disclaimer

Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
PRISMA 2020 flow diagram of the study.
See this image and copyright information in PMC

References

    1. Iourov IY, Vorsanova SG, Voinova VY, Kurinnaia OS, Zelenova MA, Demidova IA, et al. . Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease. Mol Cytogenetics. (2013) 6:1–8. doi: 10.1186/1755-8166-6-53 - DOI - PMC - PubMed
    1. Percy AK. Rett syndrome: Current status and new vistas. Neurologic Clinics. (2002) 20:1125–41. doi: 10.1016/s0733-8619(02)00022-1 - DOI - PubMed
    1. Jeffrey L, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, et al. . Rett syndrome: Revised diagnostic criteria and nomenclature. Ann Neurol. (2010) 68:944–50. doi: 10.1002/ana.22124 - DOI - PMC - PubMed
    1. Zhao Y, Zhang X, Bao X, Zhang Q, Zhang J, Cao G, et al. . Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. BMC Med Genet. (2014) 15:24. doi: 10.1186/1471-2350-15-24 - DOI - PMC - PubMed
    1. Renieri A, Mari F, Mencarelli MA, Scala E, Ariani F, Longo I, et al. . Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). Brain Dev. (2009) 31:208–16. doi: 10.1016/j.braindev.2008.04.007 - DOI - PubMed

Publication types

MeSH terms

LinkOut - more resources