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The TIPY study: Klinefelter syndrome – the effect of Testosterone treatment In PubertY
Initiation of the study is currently pending the final ethical permissions
Klinefelter syndrome (KS) is characterized by an extra X chromosome in males. Symptoms in adulthood include small testicles, testosterone deficiency, infertility, truncal obesity, psychosocial and learning disabilities and an increased risk of developing type II diabetes, cardiovascular disease, and osteoporosis.
It has been internationally accepted and makes biological sense to start testosterone treatment in puberty to ensure a normal genital development, optimize body composition and bone mineralization. During recent years testosterone treatment in puberty in boys with KS has been questioned and is no longer recommended in some countries.

Aims and Study Design
The aim of this project is to evaluate the effect of two years testosterone treatment during puberty in boys with KS aged 10 to 14 years. The study is planned as a national multi-center, randomized, double-blind, placebo-controlled intervention study. We hypothesize that testosterone replacement therapy during puberty in KS:

• improves body composition
• improves body proportions
• improves virilization
• maximizes peak bone mass acquisition (by reducing bone loss)
• improves the ability to sustain attention
• reduces behaviors and symptoms of psychopathology related to anxiety and depression
• improves adaptive behaviors, quality of life and self-esteem

We further hypothesize that a reduction in body fat mass during puberty positively affects lipid and glucose metabolism, and thereby reduces the future risk of developing metabolic syndrome, type II diabetes and cardiovascular disease, that are known to cause an increased morbidity and mortality in adults with KS.

The Research Team
The project is coordinated at Dept. of Growth and Reproduction, Rigshospitalet with consultant Lise Aksglæde as PI and conducted in collaboration with: Niels Holtum Birkebæk, Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital; Anders Jørgen Schou, Hans Christian Andersen Children’s Hospital, Odense University Hospital; Ann-Margrethe Rønholt Christensen, Department of Pediatrics, Aalborg University Hospital.

The study is supported by The Novo Nordisk Foundation.

Key EDMaRC researcher in the project:
Dept. of Growth and Reproduction
Copenhagen University Hospital, Rigshospitalet
Blegdamsvej 9
DK-2100 Copenhagen Denmark

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