hrp0082fclb3 | Late Breaking Abstracts | ESPE2014

Parent-of-Origin Specific Allelic Associations Among 106 Genomic Loci for Age at Menarche

Perry John , Day Felix , Elks Cathy , Sulem Patrick , Stefansson Kari , Murabito Joanne , Ong Ken

Background: Age at menarche in girls varies widely between individuals, is a heritable trait and is associated with risks for adult obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality.Objective and Hypotheses: The mechanisms that determine pubertal timing and underlie its links to later disease remain unclear.Method: We performed a genome-wide association study meta-analysis of genome-wide or den...

hrp0097fc13.1 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Genetic evaluation in children with self-limited pubertal delay discloses new candidate genes

Rezende Raissa , Schafer Evan , Kaisinger Lena , He Wen , Andrade Nathalia , Dantas Naiara , Cellin Laurana , Quedas Elisangela , Perry John , Howard Sasha , Claudia Latronico Ana , Chan Yee-Ming , Jorge Alexander

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...