Smell and puberty in CHARGE syndrome

Activity: Talk or presentationProfessional

Jorieke Kammen-Bergman, van - Speaker

Conny Ravenswaaij-Arts, van - Speaker

Smell deficiency and delayed/absent puberty often occur in CHARGE syndrome, but few studies have looked at these features in adolescent patients. Therefore, we studied smell and puberty development in 22 adolescent CHARGE patients and showed that puberty and smell problems always co-occur. Therefore, a smell test can possibly predict whether puberty will occurspontaneously or not. This will prevent delay of hormonal pubertal induction, resulting in an age-appropriate puberty in smell deficient CHARGE patients.

Event (Conference)

Title9th International CHARGE conference
CountryUnited States
Degree of recognitionInternational event

ID: 126150112