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.

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.

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