hrp0095p1-185 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Puberty induction in boys with CHARGE syndrome and hypogonadism: experiences of patients, parents and doctors

Dijk Dieuwerke , Bocca Gianni , Ranchor Adelita , Van Ravenswaaij-Arts Conny

CHARGE syndrome is a rare and complex disorder with an incidence of 1:15000 to 1:17000 live births. It is associated with a wide range of issues, including, but not limited to, coloboma of the eye, congenital heart disease, atresia of the choanae, retardation of growth and development, hypogonadotropic hypogonadism, ear abnormalities and hearing loss. Hypogonadotropic hypogonadism is present in 60-88% of individuals with CHARGE syndrome. In these patients, hormone replacement ...