Endocrine and metabolic features of PTEN hamartoma tumor syndrome in childhood: a pediatric case series - PubMed
6 hours ago
- #genetic disorders
- #PTEN syndrome
- #pediatric endocrinology
- PHTS is caused by germline PTEN mutations and presents with variable phenotypes in childhood.
- Four pediatric cases showed features like juvenile polyposis, hypoglycemia, growth hormone deficiency, thyroid nodules, and insulin resistance.
- Non-tumoral manifestations include glucose metabolism abnormalities, growth axis issues, and neurodevelopmental concerns.
- Early diagnosis and multidisciplinary follow-up are crucial to prevent complications.