Article
Endocrine and metabolic features of PTEN hamartoma tumor syndrome in childhood: a pediatric case series.
Journal of pediatric endocrinology & metabolism : JPEM - 24 Jun 2026
Özsoy Nazlı Sultan, Baştürk Ahmet, Altay Derya, Kara Leyla, Şiraz Ülkü Gül, Hatipoğlu Nihal
Abstract excerpt
OBJECTIVES: 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. CASE PRESENTATION: This case series presents four pediatric patients with confirmed PTEN mutations. The clinical features included juvenile polyposis,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.