<i>MECP2</i> Rare Variants in Boys With Central Precocious Puberty

MECP2 rare variants were identified in boys with sporadic CPP, expanding this association as previously described in girls. Our findings provide additional evidence for a role of MECP2, an epigenetic factor, in hypothalamic control of pubertal timing.

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Publication Details

Journal
The Journal of Clinical Endocrinology & Metabolism
Published
2025-10-24
DOI
https://doi.org/10.1210/clinem/dgaf572
Primary Topic
Genetics and Neurodevelopmental Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

MECP2 Rare Variants in Boys With Central Precocious Puberty

Ana Cláudia Latronico, Matthew D. Benson, Sasha Howard, Jordan E. Read et al.
The Journal of Clinical Endocrinology & Metabolism
Genetics and Neurodevelopmental Disorders
article

MECP2 Rare Variants in Boys With Central Precocious Puberty

Ana Cláudia Latronico, Matthew D. Benson, Sasha Howard, Jordan E. Read, Melissa Magnuson, Ana Pinheiro Machado Canton, Stephanie Roberts, Rathika D. Shenoy, Cinthia Gabriel Meireles, Ursula B. Kaiser, Rona S. Carroll, Jacobo Buelvas Mebarak, Ana Paula Abreu
article en

Abstract

MECP2 rare variants were identified in boys with sporadic CPP, expanding this association as previously described in girls. Our findings provide additional evidence for a role of MECP2, an epigenetic factor, in hypothalamic control of pubertal timing.

The Journal of Clinical Endocrinology & MetabolismVol. 111(4)
Brigham and Women's Hospital (US), Boston Children's Hospital (US), Harvard University (US), University of Miami (US), Queen Mary University of London (GB), Universidade de São Paulo (BR), Nemours Children's Health System (US), William Harvey Research Institute (GB)
Openalex Percentile: Top 67%
Genetics and Neurodevelopmental Disorders
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