Endocrine Abstracts

Introduction: X-linked hypoparathyroidism is an extremely rare disease, so far described in only two multigenerational kindreds. In US, who later on the genetic testing were found to be interrelated. W describe X-linked congenital hypoparathyroidism in a family from India.

Case report: Case 1 presented with hypocalcaemic non-febrile generalised tonic clonic seizures at 16 months of age. Seizures controlled after hypocalcaemia correction. He was put on T. calcitriol 0.5 mg B.D, 1.5 g calcium/day. Case 2 presented with hypocalcaemic neonatal generalised tonic clonic seizure. He was put on calcitriol 0.5 mg/day, 1 g of calcium. Both had delayed milestones and growth, developed B/L cataract and B/L basal ganglia calcification, required addition of phenobabitone at 10–12 year of age. Parents and two sisters are asymptomatic. History of death of a male child at age of 2 years on maternal sides (Table 1).

Conclusion: This is first report of X-linked hypoparathyroidism outside the Missouri kindred. The two brothers exibit strikingly similar phenotype. In addition we also describe abnormalities of dentition and cataract in presence of seemingly adequate calcitriol and calcium replacement. Genetic analysis of such family could throw insight into as yet known aspects of parathyroid gland development and disease.