Terminal deletion of chromosome 10p13 as a cause of hypoparathyroidism in a neonate

Abstract

Objective – To present a case of hypoparathyroidism that was found to be a part of a rare chromosomal syndrome and to emphasize the importance of its early diagnosis.

Case reports – We report the case of a neonate with hypoparathyroidism and dysmorphic features. The chromosome analysis detected terminal deletion of chromosome 10p13. The diagnosis was made of HDR (hypoparathyroidism, sensorineural deafness and renal disease) syndrome due to haploinsufficiency of the GATA-3 gene located on 10p. We searched for additional manifestations

of 10p deletion and developed an early management plan in order to prevent complications and improve the prognosis.

Conclusion – Chromosomal aberration should be suspected in any neonate with dysmorphic features and intrauterine growth retardation, but the presence of hypoparathyroidism may prompt targeted evaluation for particular chromosomal areas, including 10p.