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Case series reveals endocrine and metabolic issues in children with PTEN mutations, indicating the need for early intervention.
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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Ozsoy et al. (2026) studied this question.
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