hrp0089rfc15.3 | Growth and syndromes | ESPE2018

Multiple Pituitary Hormone Deficiencies and Early Onset Obesity in Two Siblings with a Mutation in the MAGEL2-gene: Evidence for an Important Regulatory Function of the MAGEL2-gene in the Hypothalamic-Pituitary Hormone Pathways

Kuhnle-Krahl Ursula , Shoukier Moneef , Schaaf Christian P , Land Cristoph

We have investigated two siblings, a sister and a brother, who presented at the age of 2 years, with central hypothyroidism, short stature and early onset obesity. The older sister presented at the age of 6 months with central hypothyroidism and was started on a low dose of thyroid hormone (25 ug l-thyroxine). Her growth continued to be poor and at the age of 2 years and 6 months her height was −3.98 SDS. She was started on growth hormone followed by a rapid catch-up gro...