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

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

Abstract 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...

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Main Authors: 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
Format: Article
Language:English
Published: SpringerOpen 2025-05-01
Series:Egyptian Pediatric Association Gazette
Subjects:
Insulin resistance
Insulin receptor
Ovarian tumor
Necrotizing enterocolitis
Online Access:https://doi.org/10.1186/s43054-025-00368-5
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Summary:Abstract 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.
ISSN:2090-9942

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