Growth hormone therapy in kabuki syndrome: Prospective study on the metabolic and longitudinal growth effects of rhGH treatment in children with Kabuki Syndrome

Nina Schott

Research output: ThesisDoctoral ThesisInternal


Symptoms of Kabuki syndrome (KS) in children include short stature, weak muscle tone and joint hyperflexibility. Children with similar syndromes receive growth hormone treatment with positive effects. This dissertation found that growth hormone treatment is also effective in children with KS. Stature improved significantly and muscle mass increased during relative to fat mass. This helps to reduce the risk of becoming overweight or obese later in life. Growth hormone treatment also improved overall metabolism and reduced joint hyperflexibility. Given these positive effects, growth hormone treatment is recommended for children with KS.
Original languageEnglish
Awarding Institution
  • Maastricht University
  • Stumpel, Constance, Supervisor
  • Zimmermann, Luc, Supervisor
  • Gerver, Wilhelmus, Co-Supervisor
Award date20 Dec 2018
Publication statusPublished - 2018


  • children
  • Kabuki syndrome
  • growth hormone
  • hyperflexibility
  • treatment

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