SSY Chan, HC Yau, LM Wong

Abstract

Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome caused by mutation in the GATA3 gene is rare. This condition can be diagnostically challenging and delay in the diagnosis can have detrimental consequences of hypocalcaemic seizures or renal failure. This is a case series of 3 Chinese patients in Hong Kong with different mutations of the GATA3 gene. Our patients show great variability in presentation of hypoparathyroidism and renal abnormalities but all 3 have deafness as a consistent feature of this syndrome. Hypoparathyroidism can be managed by replenishing calcium and active vitamin D. None of our patients showed renal failure as to date. The mutations of our patients include c.708del, c1099C>T and c.815C>T. Earlier diagnosis emphasizes the need for genetic testing or for clinicians to look for other features of HDR syndrome to help with earlier intervention of complications.