Familial isolated hypoparathyroidism type 2: a case report with review of literature

Familial isolated hypoparathyroidism (FIH) is a rare group of genetic disorder associated with dysregulation parathyroid hormonal axis characterized by refractory hypocalcaemia. Herein we report 1 month 4 days old baby born out consanguineous marriage presented respiratory distress single episode convulsion, cause pointing towards The hypocalcaemia symptoms were despite repeated calcium gluconate. Laboratory parameters yielded evidence which was further strengthened neuroimaging and skeletal imaging. treated oral calcitriol supplementation along institution phosphate binder. Whole genome exome sequencing revealed novel nonsense mutation glial cell missing transcription factor 2 (GCM2) gene variant c.109C>T (p.Gin37Ter) establishing the diagnosis as FIH type 2. normalized in follow up. new found locus variation GCM2 adds another feather to ever-evolving conundrum disease.