{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T00:35:40Z","timestamp":1792888540766,"version":"4.5.0"},"reference-count":40,"publisher":"The Endocrine Society","issue":"4","license":[{"start":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T00:00:00Z","timestamp":1761436800000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2019\/27631-7"],"award-info":[{"award-number":["2019\/27631-7"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["222049\/Z\/20\/Z"],"award-info":[{"award-number":["222049\/Z\/20\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015652","name":"Barts Charity","doi-asserted-by":"publisher","award":["MGU0552"],"award-info":[{"award-number":["MGU0552"]}],"id":[{"id":"10.13039\/100015652","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,3,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Central precocious puberty (CPP) has strong genetic and epigenetic influences. MECP2, an X-linked gene, encodes a DNA methylation reader with a role in gene transcription regulation. MECP2 loss-of-function mutations are linked to neurodevelopmental disorders, particularly with Rett syndrome, a severe disorder that may be associated with early puberty. MECP2 variants were identified in girls with CPP with or without neurodevelopmental disorders.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>This work aimed to investigate potential MECP2 variants in boys with idiopathic CPP at 3 academic hospitals.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>MECP2 DNA sequencing was performed in 10 boys with idiopathic CPP to screen for coding variants (5 exome; 5 Sanger sequencing). There were no mutations in other CPP-causing genes (MKRN3 and DLK1). MECP2 protein levels of wild-type and identified variants were assessed in a gonadotropin-releasing hormone neuronal cell line.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We identified 2 hemizygous missense MECP2 variants in 2 unrelated boys. Patient 1 had very early sporadic CPP, speech delay, and autism. He harbored a p.Val312Ile variant, an extremely rare variant located in a critical MECP2 domain. Patient 2 had sporadic CPP with no apparent neurodevelopmental disorders. He harbored a rare variant, p.Arg366Cys. Both MECP2 variants were inherited from mothers with normal puberty. Neither patient had features of Rett syndrome. Both variants had reduced MECP2 protein levels, suggesting a potential deleterious effect.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgaf572","type":"journal-article","created":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T12:05:40Z","timestamp":1761307540000},"page":"e1006-e1013","source":"Crossref","is-referenced-by-count":3,"title":["<i>MECP2<\/i>\n                    Rare Variants in Boys With Central Precocious Puberty"],"prefix":"10.1210","volume":"111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8662-5412","authenticated-orcid":false,"given":"Ana P M","family":"Canton","sequence":"first","affiliation":[{"name":"Developmental Endocrinology Unit, Division of Endocrinology and Metabolism, School of Medicine, University of S\u00e3o Paulo , S\u00e3o Paulo 05403-000 ,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacobo 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