Endocrine and metabolic features of PTEN hamartoma tumor syndrome in childhood: A pediatric case series

Özsoy N. S., Baştürk A., ALTAY D., KARA L., GÜL ŞİRAZ Ü., Hatipoäÿlu N.

Journal of Pediatric Endocrinology and Metabolism, 2026 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2026
  • Doi Numarası: 10.1515/jpem-2025-0587
  • Dergi Adı: Journal of Pediatric Endocrinology and Metabolism
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE
  • Anahtar Kelimeler: cancer, hypoglycemia, juvenile polyposis, PTEN gene
  • Erciyes Üniversitesi Adresli: Evet

Özet

Phosphatase and tensin homolog (PTEN) Hamartoma Tumor Syndrome (PHTS) is caused by germline inactivating mutations in the PTEN gene and is phenotypically variable, often presenting diagnostic challenges and systemic complications during childhood. This case series presents four pediatric patients with confirmed PTEN mutations. The clinical features included juvenile polyposis, hypoglycemia, growth hormone deficiency, juvenile papillomatosis, thyroid nodules, cerebral cavernoma, and insulin resistance. This report highlights the heterogeneous pediatric phenotype of PHTS and draws attention to the non-tumoral manifestations of PTEN mutations, including abnormalities in glucose metabolism, growth axis, and neurodevelopment. Early diagnosis and multidisciplinary follow-up are essential to prevent potential complications.