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April 14, 2026Journal of Pediatric Endocrinology and Metabolism0 citations

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

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NONazlı Sultan OzsoyABAhmet BaştürkDADerya Altay

Key Points

  • This report aims to outline the varied symptoms of PTEN hamartoma tumor syndrome (PHTS) in children, focusing on non-tumoral effects.
  • Presented clinical case series of children with PTEN mutations
  • Evaluated glucose metabolism and growth axis abnormalities
  • Assessed neurodevelopmental issues associated with PHTS
  • Identified diverse metabolic and endocrine abnormalities in pediatric cases
  • Noted significant issues in glucose metabolism and growth axis
  • Emphasized the importance of early diagnosis and multidisciplinary management

Abstract

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.

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Cite This Study

Ozsoy et al. (2026) studied this question.

synapsesocial.com/papers/69ddd9f9e195c95cdefd7601https://doi.org/10.1515/jpem-2025-0587
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