Complexities of Barakat syndrome: Insights from two challenging cases

ABSTRACT Barakat syndrome, characterized by the triad of hypoparathyroidism, deafness, and renal disease, also known as hypoparathyroidism, sensorineural deafness, and renal disease (HDR) syndrome, is an autosomal dominant, rare genetic disease caused by haploinsufficiency of the GATA -binding protein 3 ( GATA3 ) gene. We describe two cases with distinct clinical presentations and shared underlying genetic abnormality. Clinicians should be aware of this rare inherited condition when a patient presents with a constellation of signs and symptoms because it allows early intervention to minimize future clinical problems.

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Publication Details

Journal
IJEM Case Reports
Published
2025-04-01
DOI
https://doi.org/10.4103/ijemcr.ijemcr_80_24
Primary Topic
Connective tissue disorders research
Type
article
Field-Weighted Citation Impact
0.00
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article

Complexities of Barakat syndrome: Insights from two challenging cases

S. Bhattacharyya, Amit K. Verma
IJEM Case Reports
Connective tissue disorders research
article

Complexities of Barakat syndrome: Insights from two challenging cases

S. Bhattacharyya, Amit K. Verma
article en

Abstract

ABSTRACT Barakat syndrome, characterized by the triad of hypoparathyroidism, deafness, and renal disease, also known as hypoparathyroidism, sensorineural deafness, and renal disease (HDR) syndrome, is an autosomal dominant, rare genetic disease caused by haploinsufficiency of the GATA -binding protein 3 ( GATA3 ) gene. We describe two cases with distinct clinical presentations and shared underlying genetic abnormality. Clinicians should be aware of this rare inherited condition when a patient presents with a constellation of signs and symptoms because it allows early intervention to minimize future clinical problems.

IJEM Case ReportsVol. 3(2)
Manipal Hospital (IN)
Openalex Percentile: Top 83%
Connective tissue disorders research
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