Endocrine Manifestations Of Lysosomal Storage Disorders

30 minutes
English
Rare Diseases
Mucopolysaccharidosis
MPS

This webinar provides a comprehensive exploration of lysosomal storage disorders (LSDs) from the perspective of pediatric endocrinologists and general pediatricians. It aims to enhance awareness of how metabolic diseases can present in endocrine practice and equip clinicians with the knowledge to recognize early warning signs.

Summary

Participants will learn how metabolic disorders, including mucopolysaccharidosis (MPS), may initially manifest with endocrine abnormalities, often leading to misdiagnoses or delayed intervention. The session reviews key endocrine symptoms associated with LSDs, highlighting their distinction from more common pediatric endocrine conditions. The webinar also emphasizes the importance of clinical suspicion when evaluating unexplained endocrine presentations. By understanding the signs and symptoms that should prompt further investigation, pediatric endocrinologists and general practitioners can improve early detection, ensuring timely diagnosis and appropriate patient management.