hrp0097p1-313 | Growth and Syndromes | ESPE2023

Genetic aetiology of short stature in children from consanguineous families from Kurdistan, Iraq

Anne Amaratunga Shenali , Hussein Tayeb Tara , Dusatkova Petra , Drabova Jana , Elbova Lenka , Pruhova Stepanka , Lebl Jan

Introduction: Linear growth is a complex process involving the interplay of genetic, epigenetic, and environmental factors. Current knowledge sheds importance to the GH-IGF-1 axis, chondrocyte regulation and extra-cellular matrix in the growth plate, and other fundamental intracellular processes. Despite these advancements, the genetics of short stature are not fully understood. This study aims to contribute by investigating a unique cohort of children from co...

hrp0095p1-43 | Diabetes and Insulin | ESPE2022

The spectrum of paediatric diabetes subtypes from a single center in a highly consanguineous region

Anne Amaratunga Shenali , Hussein Tayeb Tara , Nabaz Muhamad Sediq Rozhan , Karem Hama Salih Fareda , Dusatkova Petra , Pruhova Stepanka , Lebl Jan

Introduction: Monogenic diabetes has been estimated to be 1 - 6% of all diabetic cases in European countries which are primarily non consanguineous populations, while the incidence in highly consanguineous areas is insufficiently defined. However, the genetic aetiology of monogenic diabetes has been shown to be widely different in areas with prevalent consanguinity compared to areas with lower rates. In this single-centre study, we aimed to evaluate the preval...