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Obsessive-compulsive disorder (OCD) is a mental health condition characterized by recurrent obsessions, compulsions, or both, which consume significant time and interfere with daily functioning. Obsessions involve persistent, intrusive, and unwanted thoughts, images, or urges that evoke anxiety. Common examples include irrational fears of contamination or harm. Compulsions are repetitive behaviors or mental acts performed to reduce the anxiety caused by obsessions. For instance, individuals...
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Updated: Jul 23, 2025

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Barakat syndrome.

Beáta Arciniegas Berkešová, Zoltán Borbély

    Vnitrni Lekarstvi
    |July 19, 2023
    PubMed
    Summary

    Barakat syndrome (HDR syndrome) is a rare genetic disorder affecting hypoparathyroidism, deafness, and renal function. This case report details a patient presenting with hypoparathyroidism, unilateral deafness, and renal impairment.

    Area of Science:

    • Genetics
    • Endocrinology
    • Nephrology

    Background:

    • Barakat syndrome, also known as HDR syndrome, is a rare, autosomal dominant genetic disorder.
    • It is characterized by a variable triad of hypoparathyroidism (H), deafness (D), and renal disease (R).
    • Mutations in the GATA3 gene or deletions on chromosome 10p14 are the primary causes.

    Observation:

    • This report presents a case of Barakat syndrome in a patient with hypoparathyroidism, unilateral deafness, and renal impairment.
    • The patient exhibited a partial manifestation of the classic HDR triad.
    • This highlights the clinical heterogeneity of the syndrome.

    Findings:

    • The case underscores the diverse clinical presentations of Barakat syndrome, extending beyond the typical HDR triad.
    Keywords:
    Barakat syndromeGATA3HDR syndromechromosome 10pdeafnesshypocalcemiahypoparathyroidismrenal disease

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  • Genetic analysis confirmed the diagnosis, aligning with known pathogenic mechanisms.
  • The patient's specific combination of symptoms provides further insight into genotype-phenotype correlations.

    • Implications:

    • Understanding the phenotypic variability of Barakat syndrome is crucial for timely diagnosis and management.
    • This case contributes to the growing body of literature on HDR syndrome, aiding in recognizing less common presentations.
    • Further research into GATA3 gene function and its role in development can illuminate therapeutic strategies.