hrp0089p2-p213 | GH & IGFs P2 | ESPE2018

Different Genetic Causes of Short Stature in a Family

Tulun Alev , Pfaffle Roland , Rockstroh Denise , Jamra Rami Abou , Schmidt Julia , Gillessen-Kaesbach Gabriele , Hoppmann Julia , Hiort Olaf

Background: The most common endocrine cause of growth disorders in childhood is growth hormone deficiency (GHD). The rare monogenic forms of GHD are inherited as autosomal dominant or recessive traits and manifest as isolated deficiency or in combination with other hormone deficiencies. Here, we report on a three-year-old girl with a severe growth retardation (height 77 cm, – 5.6 S.D.S.). She is the only child of non-consanguineous parents from northern Ira...