hrp0095rfc7.3 | Growth and Syndromes | ESPE2022

Genetic analysis of children with clinically non-syndromic tall stature

Adamovicova Katerina , Plachy Lukas , Dusatkova Petra , Lebl Jan , Maratova Klara , Sumnik Zdenek , Neuman Vit , Petruzelkova Lenka , Snajderova Marta , Obermannova Barbora , Kolouskova Stanislava , Malikova Jana , Pruhova Stepanka

Introduction: The genetic investigation of tall stature (TS) is routinely indicated only in children with clinical suspicion of a specific syndrome associated with TS. After ruling out an endocrine disorder, the remaining tall children mostly receive a clinical diagnosis of “idiopathic” (ITS) or “familial” tall stature (FTS). The aetiology of their TS remains unknown.Aims: To elucidate genetic cau...