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Case report: a case of hypoparathyroidism-sensorineural deafness-renal dysplasia syndrome

Jinyan Yang1, Yanjie Mei1, Feifei Tang1

  • 1Department of Endocrinology, Bozhou People's Hospital, Anhui Province, China.

Frontiers in Genetics
|May 7, 2025
PubMed

This article reports a case of a young woman who was admitted to the hospital with "sudden convulsions for 3 h." She was diagnosed with hypoparathyroidism and found to have sensorineural deafness and left renal agenesis. A diagnosis of hypoparathyroidism-sensorineural deafness-renal dysplasia (HDR) syndrome was established, and the patient was treated with calcium and active vitamin D. After 2 years of follow-up, her blood calcium levels continued to fluctuate significantly. Subsequently, a heterozygous variant in the GATA3 gene (NM_001002295.2:c.404dup) was detected. According to the literature, patients with HDR syndrome require low doses of active vitamin D supplementation. Excessively high blood calcium levels should be avoided, and treatment should be individualized.

Keywords:
GATA3 geneHDR syndromehypoparathyroidismrenal dysplasiasensorineural deafness

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