ESPE Abstracts

Objective: Most children with short stature remain without an etiologic diagnosis after extensive clinical and laboratory evaluation and are classified as idiopathic short stature (ISS). This study aimed to determine the diagnostic yield of a multigene gene analysis in children classified as ISS.Design and Methods: We selected 102 children with ISS and performed the genetic analysis as part of the initial investigation. ...

Introduction: The majority of children with short stature are classified as ISS by the absence of findings that could elucidate the cause of their growth impairment. Several monogenic defects have already been identified in children with ISS, but the candidate gene approach is not feasible when there are no specific findings to guide a specific genetic test.Objective: To evaluate the diagnostic yield of a targeted gene p...

Background: Genetic causes of central precocious puberty (CPP) has been increasingly recognized, extending our knowledge of the triggering factors of human pubertal timing. Distinct etiologies remain to be elucidated in sporadic and familial cases. Methyl-CpG-binding protein 2 (MECP2) is a chromatin-associated protein that can activate or repress gene transcription, playing a role in neuronal maturation. It is encoded by MECP2 gene located at chromoso...