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Pediatr Blood Cancer. 2010 Jul 15;55(1):206-7. doi: 10.1002/pbc.22433.

Sertoli Leydig cell ovarian tumour and gastric polyps as presenting features of Peutz-Jeghers syndrome.

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  • 1Department of Oncology. Alder Hey Children's NHS Foundation Trust, Liverpool, UK.


We report a case of Peutz-Jeghers syndrome (PJS) in a 2-year old with precocious puberty secondary to a Sertoli-Leydig cell tumour. Family history of PJS and other neoplasms were discovered. The tumour was excised and the STK11 gene deletion identified in both patient and father. Screening revealed hamartomatous gastric polyps, which were removed. Current recommendations for screening of children with PJS begin at age 8 years, based on reported occurrence of complications 1. This report illustrates the importance of considering early screening, along with close clinical review and patient/parent education, for detection of life threatening neoplasms and complications.

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