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Background <p>Ring chromosome 7 has been associated with developmental delay, mental disability, growth failure, and numerous developmental organ anomalies. To date, very few cases have been described, but none have any endocrine manifestations.</p> Case presentation <p>Here, we report a 23-year-old male suffering from ring chromosome 7 due to deletion of 7q36.1-36.3, who presented with young-onset diabetes mellitus and pituitary microadenoma in addition to the usual features of gene deletion defects.</p> Conclusion <p>This is the first reported case in the literature having endocrinopathies in association with ring chromosome 7 syndrome.</p>

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Dysendocrinism Linked to Ring Chromosome 7 with 7q36 Deletion – A Unique Case

  • 期刊论文

  • 发表日期：

    2025年12月6日

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  • Rajdeep Basu,
  • Arjun Baidya,
  • Nilanjan Sengupta,
  • Sunetra Mondal,
  • Soumik Goswami,
  • Soumita Mandal,
  • Kumar Swapnil,
  • Joydip Datta

摘要

Background

Ring chromosome 7 has been associated with developmental delay, mental disability, growth failure, and numerous developmental organ anomalies. To date, very few cases have been described, but none have any endocrine manifestations.

Case presentation

Here, we report a 23-year-old male suffering from ring chromosome 7 due to deletion of 7q36.1-36.3, who presented with young-onset diabetes mellitus and pituitary microadenoma in addition to the usual features of gene deletion defects.

Conclusion

This is the first reported case in the literature having endocrinopathies in association with ring chromosome 7 syndrome.