Objective To explore the clinical manifestation of a patient with hypoparathyroidsmsensorineural deafness-renal dysplasia (HDR) syndrome and to sequence the related GATA3 gene of the patient.Methods A 22 year old person with HDR syndrome was reported in regard to clinical manifestation,laboratory examination,and genetic mutation.Some related literatures were reviewed.Results The patient showed tetany,deafness,and positive Chvosteks' and Trousseau' s signs.The initial laboratory studies showed that serum concentration of calcium was lowed and the iPTH level were lower than normal.Binaural pure tone audiometry showed Binaural sensorineural deafness.Colour doppler ultrasound revealed that his right kidney was not observed and the level of creatinine was increased,indicating renal insufficiency.GATA3 mutations on DNA sequence analysis indicated that the 6 exon IVS6-1G-A (G/A heterozygosis splicing),showed the mutation of G to A is in the upstream of the first base in the six exon.After treating with calcium carbonate and vitamin D,the symptoms and signs were improved.Conclusion HDR syndrome is a rare endocrine disease,that should receive more attention in order to avoid missing diagnosis;The IVS6-1G-A as a novel mutation of GATA3 gene,has not been reported so far.

Objective To investigate the prevalence of hyperglycemia in patients with primary aldosteronism.Methods Thirty two patients diagnosed as primary aldosteronism(PA) in our hospital from 2010 to 2013 (PA group),and 40 patients as essential hypertension (EH group).Two groups were measured and compared,including blood pressure,plasma aldosterone,urine aldosterone,and plasma potassium.Oral glucose tolerance test (OGTT) was performed and homeostasis model assessment-insulin resistance index(HO-MA-IR) were calculated.Results The prevalence of hyperglycemia was 43.75％ in PA group,including 25％ patients of glucose intolerance and 18.75％ patients of diabetes mellitus,which was significantly higher than those of EH group (25％,12.5％,and 12.5％,respectively).PA group's fasting and 2-hour postprandial insulin levels and insulin resistance index were higher than that of EH group.Conclusions The present study indicated that patients with PA had a significantly high prevalence of glucose metabolism disturbance and insulin resistance.Screening test should be performed and avoid missed diagnosis.