ESPE Abstracts

Introduction: Age at pubertal onset is a markedly inherited trait. The most common cause of pubertal delay, self-limited pubertal delay, is defined by the absence of secondary sexual characteristics after 13 years in girls and 14 years in boys, with progression before age 18. This study aimed to detect novel candidate genes for self-limited pubertal delay.Methods: Eighty-one patients with confirmed self-limited delayed p...

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...

Introduction: Growth disorders are often caused by monogenic conditions, and genetic investigation should be guided by clinical findings. However, in children with ISS, the absence of specific clinical features prevents the candidate gene approach. ACMG practice guideline (2021) recommends that children with ISS could be evaluated using targeted panel sequencing or WES. In commercial laboratories, WES is often performed and the genetic evaluation is offered as...