Assessing Pubertal Timing, Duration, and Related Characteristics in ASXL-Related Disorders: A Cross-Sectional Caregiver Survey Analysis.

Amanda Piring, Rebecca Hicks, Julia Sloan, Estefania Ramires-Sanchez, Bianca E Russell

Abstract read

In one paragraph

Article in American journal of medical genetics. Part A, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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0 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Amanda PiringClinical and Translational Science Institute, University of California, Los Angeles, California, USA.ORCID 0009-0003-9462-4534

Rebecca HicksDepartment of Pediatrics, Division of Endocrinology, University of California, Los Angeles, California, USA.

Julia SloanDepartment of Urology, Division of Clinical Genetics, University of California, Los Angeles, California, USA.

Estefania Ramires-SanchezDepartment of Medicine Statistics Core, University of California, Los Angeles, California, USA.

Bianca E RussellDepartment of Human Genetics, Division of Clinical Genetics, University of California, Los Angeles, California, USA.

Funding

UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026

$118.1M

ASXL Rare Research Endowment FoundationNCATS NIH HHS UL1 TR001881NCATS NIH HHS UL1TR001881

6 · The paper itself

Abstract

Limited studies have been conducted on pubertal development in populations with pre-existing medical conditions. More than 20-fold increased risk of early puberty has been reported in neurodevelopmental disorders; however, this is a heterogeneous group. There have been limited past studies examining the timing, duration, or characteristics of pubertal or menstrual cycle development in patients with ASXL-related disorders. This study aimed to gather empirical cross-sectional parent survey data regarding pubertal development in adolescents diagnosed with Bohring-Opitz syndrome (BOS) (ASXL1), Shashi-Pena syndrome (SPS) (ASXL2), or Bainbridge-Ropers syndrome (BRS) (ASXL3). Our findings showed evidence for parental and perceived provider concern for premature pubarche and possible precocious puberty (PP) in BOS (ASXL1) males and females. Findings between the BOS (ASXL1) and BRS (ASXL3) individuals differed, representing distinct pubertal phenotypes within these populations. Notable trends toward premature development may warrant a low threshold for pediatric endocrinological evaluation in this population. The characterization and description of a pubertal profile for the ASXL-related syndromes can help inform providers and parents when navigating this stage of development. Our study findings also highlight the need for prospective natural history studies to further define the contribution of pubertal development to the ASXL disorders phenotypes.

Indexed as

PubertyPuberty, PrecociousAdolescentCaregiversChildCross-Sectional StudiesFemaleHumansMalePhenotypeSurveys and QuestionnairesASXL1ASXL2ASXL3Bainbridge‐Ropers syndromeBohring‐Opitz syndromeneurodevelopmental disorderpubertyShashi‐Pena syndrome

Identifiers

PMID40808361

DOI10.1002/ajmg.a.64216

PMCPMC12671694

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.