hrp0089p2-p344 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Copy-Number Variations of the Human Olfactory Receptor Gene Family in Patients with Macromastia and Prepubertal Gynecomastia

Baş Firdevs , Karaman Birsen , Al Aslı Derya Kardelen , Heidargholizadeh Somayyeh , Najaflı Adam , Toksoy Guven , Poyrazoğlu Şukran , Yıldız Melek , Uyguner Oya , Başaran Seher , Darendeliler Feyza

Background: Aromatase excess syndrome (AEXS) (OMIM 139300) is a rare condition characterized with gynecomastia in boys and macromastia in girls. Estrogen excess in boys can lead to prepubertal and pubertal gynecomastia, bone age progression and short adult stature. While most of girls are usually asymptomatic, there are few reported female patients with excessive breast growth, early puberty, menstrual irregularities, and short adult stature. Male and female children with AEXS...