Mutation of the MECP2 gene, the main cause of Rett syndrome, alters pubertal development and sex hormones in mice
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A research team including personnel from the Departament of Biologia Celullar i Biologia Funcional at the Universitat of València (UV), the Unitat Predepartamental de Medicina at Universitat Jaume I of Castelló (UJI) and Queen Mary University of London (QMUL) has shown that a mutation in the Mecp2 gene alters the function of the hypothalamic-pituitary-gonadal axis, which controls sexual hormone levels, and delays pubertal development in a mouse model of Rett syndrome.
Rett syndrome is a rare neurodevelopmental disorder that is mostly lethal for males and affects almost exclusively girls and women. The syndrome causes severe symptoms, such as epilepsy, intellectual and motor disabilities, and respiratory difficulties. In addition to these symptoms, the disease affects the neuroendocrine system, but this has received less attention.
Now, an international team led by Carmen Agustín Pavón, an associate professor at the Faculty of Biological Sciences, has discovered that mutant mice with a Mecp2 gene mutation, the main cause of Rett syndrome, have an excess of hypothalamic GnRH neurons, cells responsible for the onset of puberty and regulation of sexual steroid levels.
However, pubertal development in mutant mice is delayed compared with healthy mice of the same age and is associated with low weight. Sexual hormone levels in mutant mice are lower than in healthy individuals, suggesting dysregulation of the hypothalamic-pituitary-gonadal axis.
"We knew that in some patients with Rett syndrome, puberty follows an atypical course, with a precocious onset but delayed first menstruation," said Ana Martín-Sánchez of Universitat Jaume I of Castelló and the study's first author. "The fact that the sexual hormone control system is altered not only affects puberty and menstrual cycles, but these hormones are key to the organization and maintenance of neural circuits that control social behavior, which is also affected in these mice, cognition and the health of the musculoskeletal system, among other functions."
"Understanding in detail the mechanisms by which the lack of MeCP2 leads to neuroendocrine alterations could open new avenues to test hormonal replacement therapies, already in use for other conditions, for patients with Rett syndrome, which could improve their quality of life," Agustín Pavón concluded.
The study is published in the Journal of Neuroendocrinology. In addition to the UV and UJI teams, the study was conducted in collaboration with Sasha R. Howard, a pediatric endocrinologist at Barts Health NHS Trust and QMUL.
More information
Ana Martín‐Sánchez et al, Pubertal development and hypothalamic–pituitary–gonadal axis are altered in male mice lacking Mecp2, Journal of Neuroendocrinology (2026). DOI: 10.1111/jne.70221
Key medical concepts
Rett SyndromeHypothalamic-Pituitary-Gonadal Axis
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NeurologyEndocrinologyChildren's healthPediatricsWomen's health Provided by Jaume I University Who's behind this story?
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Citation: Mutation of the MECP2 gene, the main cause of Rett syndrome, alters pubertal development and sex hormones in mice (2026, September 8) retrieved 8 September 2026 from https://medicalxpress.com/news/2026-09-mutation-mecp2-gene-main-rett.html This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no part may be reproduced without the written permission. The content is provided for information purposes only.