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Feminizing Sertoli cell tumor associated with Peutz-Jeghers syndrome
Ayfer Alikasifoglu1, E Nazh Gonc, Zuhal Akcoren
1Division of Pediatric Endocrinology, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey. ayfer@gen.hun.edu.tr
Insights
Peutz-Jeghers syndrome (PJS) in a young boy presented with gynecomastia and bilateral Sertoli cell tumors. This case highlights the recognized association between PJS and sex-cord tumors in males.
Area of Science:
- Endocrinology
- Pediatric Oncology
- Gastroenterology
Background:
- Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder.
- PJS is characterized by mucocutaneous pigmentation, gastrointestinal hamartomatous polyps, and increased cancer risk.
- Gonadal sex tumors are among the malignancies associated with PJS.
Observation:
- A 7.5-year-old boy with PJS presented with buccal pigmentation and a history of rectal polyp excision.
- Physical examination revealed bilateral gynecomastia and prepubertal hormonal levels.
- Testicular ultrasonography showed bilateral hyperechogenic areas.
Findings:
- Histopathological evaluation of testicular biopsies revealed bilateral multicentric benign Sertoli cell tumors.
- The patient's bone age was advanced (10.5 years) compared to his chronological age (7.5 years).
- Treatment with the aromatase inhibitor testolactone was initiated to slow skeletal maturation.
Implications:
- The association of PJS with sex-cord tumors in males is increasingly recognized.
- This case underscores the importance of monitoring for gonadal tumors in pediatric PJS patients.
- Early recognition and management are crucial for patients with Peutz-Jeghers syndrome and associated endocrine complications.
Abstract:
Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by the association of mucocutaneous pigmentation and multiple gastrointestinal hamartomatous polyps and with an increased risk of developing gonadal sex tumors besides other malignancies. We describe a 7 1/2 year-old boy with PJS and bilateral gynecomastia. He has had buccal pigmentation since 1.5 years and had been operated for rectal polyp excision at 3.5 years. On physical examination, his height was at the 90th percentile, and his height age and bone age were 9 and 10 1/2 years, respectively. Increased melanotic buccal pigmentation of the lips and bilateral gynecomastia were noticed. Both of the testes were firm, non-tender and smooth on the surface, and each measured 8 ml. Hormonal measurements were all in the prepubertal range. Testis ultrasonography showed bilateral hyperechogenic areas within the glands. When he was operated for invagination and an ileum segment full of polyps was resected, bilateral testicular biopsies were also performed. Histopathological evaluation of the testes revealed bilateral multicentric benign Sertoli cell tumors. The aromatase inhibitor testolactone was started to slow skeletal maturation. On the basis of this and previous reports, PJS associated with sex-cord tumors is increasingly recognized in males as well as in females.