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Background: Polyposis disorders of the bowel in the pediatric population are associated with elevated risks of various cancers. The most common sites of the malignancies were the gastrointestinal system, breast, gynecological organs, testis, pancreas and lung. Testicular lesions are often overlooked as PJS predominantly appear in females. Case: A 9-year-old boy was presented to gastroenterology policlinic due to pallor. He had a history of diagnostic laparotomy when he was nine dues to acute abdomen where intussusception related to ileal hamartomatous polyp was diagnosed. He had bluish-black pigmentations on the lips and oral mucosa and bilateral gynecomastia. His testicular examination showed no masses. Thelarche and pubarche was tanner stage 2. Laboratory findings did not reveal any pathological result, except anemia (Serum hemoglobin level: 8.1 gr/dl), low serum estradiol (< 5 pg/mL; reference range: 25.8-60.7) and follicle-stimulating hormone (FSH) (0.58 mIU/mL; reference range: 1.5-12.4) levels. Multiple and different sized polyps were discovered on colonoscopy and esophago-gastroduodenoscopy. Histopathological investigation of the polyps was compatible with hamartoma. The mutation analysis of the testicular specimen later identified a heterozygote mutation of patient’s STK11 genes (p.Gly 163Arg), on exon 4, consistent with the clinical diagnosis of PJS. The skeletal age (11 years) was older than the chronological age. Mammary ultrasounds proved bilateral gynecomasty and testicular ultrasonography showed bilateral multiple microcalcifications. The histopathological examination of testes wedge biopsies showed multifocal intratubular large cell hyalinizing tumors of Sertoli cells. The patient was referred to pediatric endocrinology department where aromatase inhibition therapy was initiated. After follow-up of one year, gynecomasty on the right disappeared while it was just minimal on the left breast. Conclusions: First, any child who was diagnosed to have invagination should have been checked for familial polyposis syndromes. Second, any child with the suspicion of PJS should have routine mammary and testes ultrasounds. Any abnormality especially in testicles needs further evaluation including biopsy. Unexpected malignant pathologic appearance can be seen even in the youngers. Last, malignant Sertoli cell tumors of the testes can be followed up prescribing aromatase inhibitors without any need for orchiectomy.

Intratubular Large Cell Hyalinizing Sertoli Cell Tumor of the Testes in Peutz-Jeghers Syndrome: A Case Report