Case report
Open access
Sep 2026
Hypoparathyroidism with a TBX1 variant: reconsidering genetic etiologies in the absence of 22q11.2 deletions
A 25-year-old man with congenital sensorineural hearing loss who presented with chronic hypoparathyroidism after an initial hypocalcemic seizure is reported, demonstrating isolated hypoparathyroidism with hearing loss in the absence of 22q11.2 deletion.
Marah Alsayed Hasan, Rahaf Sultan
· JCEM Case Reports · 0 citations