Short summary

Turner syndrome is a genetic condition associated with primary ovarian insufficiency, infertility, short stature, and comorbidity. This project investigates body composition and bone mineralization in children with Turner syndrome in relation to hormonal, genetic, epigenetic, and lifestyle factors, and further evaluates whether removal of an ovary affects bone mineralization and body composition. Finally, the project examine morbidity in children with Turner syndrome through a registry study.

Rationale

Turner syndrome is a genetic condition associated with primary ovarian insufficiency, infertility, short stature, and comorbidity. It affects 1/2500 girls who are born with only one functioning X-chromosome. In adults with Turner syndrome, osteoporosis is frequent, and body composition is often altered with less muscular tissue and more bodyfat. This PhD project investigates body composition and bone mineralization in children with Turner syndrome, focusing on their associations with hormonal, genetic, epigenetic, and lifestyle factors. Additionally, the project evaluates whether the removal of an ovary affects bone mineralization and body composition negatively. Finally, the project seeks to examine morbidity in children with Turner syndrome through a registry study. The PhD project is part of a national multicenter study, the DANTE Cryo Study, which investigates cryopreservation of an ovary for fertility preservation purposes in children and youth with Turner syndrome.

Description of the cohort

Girls aged 2-17 years diagnosed with Turner Syndrome, followed at pediatric departments at Odense, Århus, and Copenhagen University Hospitals.

Data and biological material

Blod samples, saliva, DXA-scans, accelerometry data. Data from National Patient Registry and Danish Cytogenetic Central Registry

Collaborating researchers and departments

Department of Molecular Medicine, Århus University Hospital

Department of growth and reproduction, Copenhagen University Hospital

Laboratory of Reproductive Biology, Copenhagen University Hospital