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Background <p>Hereditary severe insulin resistance syndrome (H-SIRS) is a group of disorders classified into four principal categories: primary insulin receptor defects, lipodystrophies, complex genetic syndromes, and obesity-related H-SIRS. Donohue syndrome represents the most extreme insulin receptoropathy with autosomal recessive inheritance. This gene is located on 19p13.</p> Case presentation <p>We report a case of a neonate with Donohue syndrome who had congenital bilateral juvenile granulosa cell tumor. She was treated surgically and by an insulin-sensitizing agent (metformin). On day 30 of life, she developed sudden fulminant necrotizing enterocolitis and unfortunately died on the same day despite aggressive resuscitation.</p> Conclusion <p>This is a unique case of congenital bilateral juvenile granulosa cell tumor in a neonate with Donohue syndrome. The tumor may constitute the natural progression of the syndrome rather than a complication of treatment. Surgery may be required when there is an increasing size of the ovaries leading to respiratory distress or when there is a concern of ovarian torsion. Given the potential for severe gastrointestinal complications in Donohue syndrome, clinicians must maintain a high index of suspicion and implement proactive monitoring strategies to ensure timely intervention and improve patient outcome.</p>

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Bilateral ovarian juvenile granulosa cell tumor in a neonate with Donohue syndrome: a case report and review of literature

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年5月23日

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  • Amany Reda Elbahbity,
  • Amr Abdelhamid AbouZeid,
  • Mohammad Hassan Mohamed,
  • Mohammad Hassan Elibiary,
  • Soha M. khafagy,
  • Amira Mostafa Rashad,
  • Shaimaa Mahmoud Abdelraouf,
  • Sohair Abdelbaset Zayed,
  • Manal Fawzy Gadalla,
  • Shaimaa Abdelsattar Mohammad

摘要

Background

Hereditary severe insulin resistance syndrome (H-SIRS) is a group of disorders classified into four principal categories: primary insulin receptor defects, lipodystrophies, complex genetic syndromes, and obesity-related H-SIRS. Donohue syndrome represents the most extreme insulin receptoropathy with autosomal recessive inheritance. This gene is located on 19p13.

Case presentation

We report a case of a neonate with Donohue syndrome who had congenital bilateral juvenile granulosa cell tumor. She was treated surgically and by an insulin-sensitizing agent (metformin). On day 30 of life, she developed sudden fulminant necrotizing enterocolitis and unfortunately died on the same day despite aggressive resuscitation.

Conclusion

This is a unique case of congenital bilateral juvenile granulosa cell tumor in a neonate with Donohue syndrome. The tumor may constitute the natural progression of the syndrome rather than a complication of treatment. Surgery may be required when there is an increasing size of the ovaries leading to respiratory distress or when there is a concern of ovarian torsion. Given the potential for severe gastrointestinal complications in Donohue syndrome, clinicians must maintain a high index of suspicion and implement proactive monitoring strategies to ensure timely intervention and improve patient outcome.