ESPE Abstracts

Background: Congenital hypothyroidism (CH), the most common preventable cause of mental retardation in children, may presents with non-specific signs and symptoms. Beside, majority of the infants can be asymptomatic. Underestimation and/or misdiagnosis may cause delay in diagnosis and results in severe complications.Case report: A 5 months-old female admitted to our clinic with the history of repeated surgical operations due to the diagnosis of congenita...

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...