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Endocrine Abstracts (2015) 37 EP269 | DOI: 10.1530/endoabs.37.EP269

Medical College Kolkata, Kolkata, West Bengal, India.


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).

Table 1
CaseS.calcium at diagnosis (mg/dl)S.phosphorus at diagnosis (mmol/l)Vit. D at diagnosisiPTH at diagnosisS.calcium at present (mEq/l)S.phosphorus at present (mEq/l)iPTH at presentAverage 24 hr urinary calcium in last 6 years
19-year male1.0510.6116<18.46.15.2340
14-year male2.39.412<195.33.9290
19-year old sister9.64
22-year old sister9.44.3
Father9.83.9
Mother8.64.8

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.

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