hrp0098p2-165 | Growth and Syndromes | ESPE2024

Pattern of growth and pubertal development in a patient with MIRAGE syndrome.

Miyako Kenichi , Furuzono Miwa , Ishii Kanako , Nakashima Yu

MIRAGE syndrome is a genetic disorder that involves multiple organs and it is characterized by myelodysplasia, immunodeficiency, growth restriction, adrenal hypoplasia, hypogonadism, and enteropathy. Due to a poor prognosis in patients with this syndrome, it is not clear how patients with MIRAGE syndrome grow or how puberty develops. As we are currently managing the oldest known male patient with this syndrome in Japan, we have a record of his growth and pubertal development f...