hrp0097p2-300 | Late Breaking | ESPE2023

Short stature and IGF-1 resistance - unexpected association of Wolf-Hirschhorn Syndrome

Pascu Bogdan , Tala Simona

Introduction: Wolf-Hirschhorn syndrome (WHS) is a rare congenital disorder characterised by a "Greek-warrior-helmet" nasal appearance, growth delay, intellectual disability, and seizures. Limited studies exist on the growth evolution of WHS children, particularly regarding growth hormone (GH) therapy. We report a case of a 3-year-old boy with WHS and severe short stature.Case Report: A 3-year-old male child, se...

hrp0097p2-205 | Thyroid | ESPE2023

Congenital hypothyroidism – the experience on a group of pediatric patients since diagnosis

Pascu Bogdan , Tala Simona , Zaharia Veronica , Ardeleanu Ioana

Background: Congenital hypothyroidism (CH) is a treatable thyroid hormone deficiency that causes intellectual disabilities and growth deficiency if not detected and treated early.Material and Methods: We retrospectively analyzed the medical records of 22 patients, 13 (59%) females and 9 (41%) males, with positive CH screening at birth and confirmed by TSH & FT4 serum concentrations measurements, thyroid ultrasound an...