Endocrine Abstracts

Background and aim: HDR syndrome, is a rare disease characterized with hypoparathyroidism, sensorineural deafness, and renal disease. Patients usually present with hypocalcaemia, tetany, or afebrile convulsions. Hearing loss is usually bilateral. Renal disease includes renal dysplasia, hypoplasia or aplasia. We report a Turkish family of HDR syndrome.

Cases: A 56-year-old hypocalcemic deaf male patient and his daughter (25 years) and son (21 years) with hypocalcemia and sensorineural deafness. Chvostek’s and Trousseau’s tests were positive and bilateral sensorineural deafness was determined in all three patients. Other physicial examination findings were normal in physical examination.

Laboratory: Routine examination of blood, urine, chest radiography, and hepatic function tests were normal. Serum calcium (6.8, 6.9, and 7.1 mg/dl), phosphorous (4.8, 4.8, and 5.2 mg/dl), 25-OH vitamin D (18.1, 16.7, and 14.4 ng/ml), PTH (11, 14, and 9 pg/ml) and 24 h urinary calcium excretion (36, 42, and 52 mg/24 h) were low respectively. A renal parenchimal atrophy in left kidney was determined in index case (father) by abdominal ultrasonographic examination. Computed tomography (CT) scan of brain showed bilateral cerebellar, basal ganglionic, and subcortical calcification in index case but electroencephalogram revealed normal background alpha activity in all cases.

Results: With the combination of hypoparathyroidism, sensorineural deafness and unilateral renal dysplasia (in father); patients were accepted as familial hypoparathyroidism. Unfortunately we could not performed genetic analysis due to technical failure.

Discussion: HDR or Barakat syndrome is a rare disease. Haploinsufficiency (deletions) of zinc-finger transcription factor GATA3 or mutations in the GATA3 gene appear to be the underlying cause of this syndrome. The syndrome should be considered in infants who have been diagnosed prenatally with a chromosome 10p defect. Management consists of treating the clinical abnormalities at the time of presentation. Prognosis depends on the severity of the kidney disease. We report a Turkish family with HDR syndrome.