hrp0097rfc4.2 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Molecular genetic diagnosis in children with Idiopathic Short Stature: Single Center Experience

Arslan Emrullah , Ece Solmaz Aslı , Avci Enise , Gul Balkı Hanife , Ozalp Kızılay Deniz , Jalilova Arzu , Er Eren , Goksen Damla , Ozen Samim , Darcan Sukran

Introduction: Idiopathic short stature(ISS) refers to children who are short because there is no identifiable defect in the growth hormone (GH)/insulin-like growth factor(IGF) axis and no other endocrine or genetic disorders. The genetic etiology of ISS in children was investigated in this study using targeted next-generation sequencing(NGS).Method: Eighty patients with short stature of unknown etiology were included in ...