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

## TL;DR

A young woman with HDR syndrome showed fluctuating calcium levels and a GATA3 gene variant, highlighting the need for personalized treatment.

## Contribution

The case highlights the importance of individualized treatment for HDR syndrome based on genetic findings and clinical outcomes.

## Key findings

- The patient had HDR syndrome with hypoparathyroidism, sensorineural deafness, and left renal agenesis.
- A heterozygous GATA3 gene variant was identified after 2 years of fluctuating calcium levels.
- Low-dose active vitamin D is recommended for HDR syndrome to avoid excessive blood calcium.

## Abstract

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.