Abstract Search

hrp0094p2-277 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Response to growth hormone therapy with high IGF-1-levels and severe insulin resistance in two-cases with SOFT syndrome: A novel homozygous mutation in POC1A

Karakilic-Ozturan Esin , Altuoglu Umut , Ozturk Ayse Pinar , Toksoy Guven , Tutku Turgut Gozde , Poyrazoglu Sukran , Bas Firdevs , Uyguner Oya , Darendeliler Feyza ,

Introduction: SOFT-syndrome (#MIM 614783) is a rare condition characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis caused by POC1A gene mutations. Moreover, severe insulin resistance (IR) and metabolic disorders may also accompany. Hereby, we report two-patients with SOFT-syndrome, who had severe short stature and IR, with a novel POC1A mutation.Case Report: Patient 1 (P1), a 16-month ol...

0 shares

ePoster

ESPE Abstracts

Response to growth hormone therapy with high IGF-1-levels and severe insulin resistance in two-cases with SOFT syndrome: A novel homozygous mutation in POC1A

BiosciAbstracts