hrp0098p1-102 | Thyroid 1 | ESPE2024

Diagnosis and treatment of a child affected with a novel thyroid hormone receptor alpha (thra) gene mutation

Felicia Faienza Maria , Giardinelli Silvia , Antonio Moscogiuri Luigi , Urbano Flavia , Matera Emilia , Refetoff Samuel

Case report: We describe a 4-year-old girl, born by vaginal delivery after 41 weeks gestational (length: 55 cm, 99thcentile, weight: 4.8 kg, 99th centile). TSH on newborn screen was normal. Evaluated in the first month of life by gastroenterologists for severe constipation required several hospitalizations and investigation by endoscopy, biopsy, and rectal manometry. Constipation was treated by continuous polyethylene glycol administratio...