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 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.