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

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 pu

SUBMITTER: Piring A 

PROVIDER: S-EPMC12671694 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature