ACTA ENDOCRINOLOGICA (BUC)

Background. HDR syndrome is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia caused by mutation of the GATA3 gene. Case report. We describe a case of HDR syndrome diagnosed in a 46-yearold male patient. He had hand numbness, intermittent dizziness, and imbalance due to hypocalcemia. Physical examination was slim in appearance, had marfanoid features, and presented the typical apathetic face. He had a narrow rib cage and pectus excavatum deformity. Laboratory findings included serum calcium of 7.4 mg/dL, phosphorus of 4.87 mg/dL, albumin of 4.5 g/dL, intact parathormone (iPTH) of 13.3 pg/mL, 25(OH) D3 vitamin of 16.3 μg/L, daily urinary calcium excretion of 23.4 mg/day. Noncontrast computerized tomography (CT) of the brain showed bilateral basal ganglia calcification. Abdominal ultrasonography and CT showed the absence of renal tissue in the left kidney site and pelvis (left renal aplasia). Audiometry revealed mild sensorineural hearing loss at high frequencies. Conclusions. The patients with HDR syndrome are often diagnosed when they are examined for symptomatic hypoparathyroidism and deafness. To the best our knowledge, the present case is the second case of Barakat Syndrome reported from Turkey. The treatment of HDR syndrome is focused on clinical symptoms. The prognosis of the disease correlates with hypoparathyroidism and the severity of renal disease. HDR syndrome has an autosomaldominant inheritance, screening of family members is recommended for early diagnosis and treatment.