hrp0092rfc15.6 | Late Breaking Abstracts | ESPE2019

Absence of Puberty and Estrogen Resistance by Estrogen Alpha Receptor Inactivation in Two Sisters: A Mutation for Variable Phenotypic Severity

Delcour Clémence , Khawaja Nahla , Mammeri Hedi , Drira Leila , Chevenne Didier , Ajlouni Kamel , De Roux Nicolas

Introduction: Estrogens play an essential role in reproduction and their peripheral action is mediated via nuclear alfa and beta receptors (ER) as well as membrane receptors. To date, only 3 females and 2 males from 3 families with a loss of function of ERa have been reported. The phenotype in these families was strongly suggestive of an estrogen resistance with an absence of a complete puberty, a delay in epiphyseal maturation with high estradiol levels and e...