ESPE Abstracts

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 therapy is necessary to induce pubertal development. Specifically in boys, the availability of two main treatment options, human chorionic gonadotropin (HCG) and testosterone supplementation, makes decision-making complex. There is little evidence about the optimal treatment in this group of boys. Differences in the course of treatment, expectations and beliefs about puberty as a phase of life in teenagers with a disability, concerns about possible side effects and doctors’ experiences can all influence decision-making. In addition, parents are often concerned about behavioral problems. We want to learn more about the experiences of patients, parents and doctors with the different treatment options, in order to make a tool to guide the decision-making process. We aim to achieve this by a mixed-methods approach which includes in-depth interviews, questionnaires and medical chart reviews. We will present the results of the in-depth interviews with patients, parents and medical professionals. Treatment decisions were largely based on experiences and preferences of the treating pediatric endocrinologist and the focus was often on physical outcomes and feasibility of therapy. Doctors emphasized the importance of pubertal development for bone mineralization and the development of a healthy body. They stressed the importance of starting puberty induction at the right age. However, there were differences in the type of therapy they preferred. There was a large variation in the experiences of patients. All of them thought puberty was important, as well as having a similar development as their peers. However, where one participant explained that taking injections gave him a lot of anxiety, another participant explained that the development of his body, sexuality and his sexual orientation was very important to him. This study shows that there are large differences in experiences with puberty induction, both in patients and professionals. These differences stress that there is a need for a broader conversation about puberty induction in boys with CHARGE syndrome.