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Background <p>H syndrome is a rare autosomal recessive disorder caused by <i>SLC29A3</i> mutations and is characterized&#xa0;by multisystem manifestations, including early-onset diabetes mellitus, hearing loss, and cutaneous abnormalities.</p> Case presentation <p>This case serires reports three related patients from South India with early-onset insulin-dependent diabetes mellitus, bilateral sensorineural hearing loss, and variable cutaneous features. Genetic testing&#xa0;identified the same homozygous exon 4 deletion in the&#xa0;<i>SLC29A3&#xa0;</i>gene in all three patients, confi rming H syndrome.</p> Conclusion <p>This first familial case series from South India highlights the importance of considering H syndrome in&#xa0;patients with early-onset diabetes and hearing loss, and underscores the value of genetic testing in establishing the&#xa0;diagnosis.</p>

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Familial H syndrome presenting with early-onset diabetes: a case series from south India

  • 期刊论文

  • 发表日期：

    2026年7月2日

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  • Leela Baid,
  • Rohini Subbiah,
  • Satyavani Kumpatla,
  • Vijay Viswanathan

摘要

Background

H syndrome is a rare autosomal recessive disorder caused by SLC29A3 mutations and is characterized by multisystem manifestations, including early-onset diabetes mellitus, hearing loss, and cutaneous abnormalities.

Case presentation

This case serires reports three related patients from South India with early-onset insulin-dependent diabetes mellitus, bilateral sensorineural hearing loss, and variable cutaneous features. Genetic testing identified the same homozygous exon 4 deletion in the SLC29A3 gene in all three patients, confi rming H syndrome.

Conclusion

This first familial case series from South India highlights the importance of considering H syndrome in patients with early-onset diabetes and hearing loss, and underscores the value of genetic testing in establishing the diagnosis.