Endocrine Abstracts

HDR syndrome (hypoparathyroidism, deafness, renal dysplasia syndrome) is a rare clinical entity, which includes the simultaneous presence of hypoparathyroidism, sensorineural deafness and renal dysplasia. It is due to mutations of GATA3 gene in XP.10p and is inherited with the autosomal dominant type.

The aim was to describe the case of a patient with clinical symptoms and laboratory and imaging findings compatible with HDR or Barakat syndrome.

A male patient aged 51 years, Caucasian, with a history of chronic hypocalcemia, sensorineural deafness affecting both ears and renal dysplasia was admitted with hypertonia of body and extremities and loss of consciousness. On admission he was found to have severe hypocalcemia and mild renal insufficiency. He was properly managed therapeutically and recovered consciousness while clinical and laboratory findings improved.

He was found to have severe hypocalcemia, serum calcium being 3.5 mg/dl, severe hypoparathyroidism, PTH being 0.7 pg/ml, renal dysplasia with mild renal insufficiency and sensorineural deafness affecting both ears. Mild vitamin D insufficiency, 25(OH)vitamin D₃ being 17 ng/ml was also detected and serum magnesium was low.

In conclusion, the extremely rare case of a patient with HDR or Barakat is described.