hrp0095p1-112 | Growth and Syndromes | ESPE2022
Giannopoulou Eleni
, Brandt Stephanie
, Schmidt Martin
, Fukami Maki
, Wabitsch Martin
Introduction: Aromatase excess syndrome (AEXS) is a rare, autosomal dominant disorder, characterized by enhanced extraglandular aromatization of androgens and estrogen excess. Genomic rearrangements in chromosome 15q21 are found to result in overexpression of the aromatase gene CYP19A1. In males it is characterized by pre- or peripubertal gynecomastia, hypogonadotropic hypogonadism, advanced bone age and short adult height. Only a few female patients have been...