ESPE Abstracts

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...

The Ig superfamily member 1 (IGSF1) gene encodes a plasma membrane immunoglobulin superfamily glycoprotein, that is highly expressed in Rathke’s pouch and the adult pituitary gland and testis. It is now known that a loss-of-function mutation in this gene causes X-linked syndromic disorders including congenital central hypothyroidism, macroorchidism, prolactin deficiency, partial and transient growth hormone (GH) deficiency, disharmonious pubertal develo...

MIRAGE syndrome is characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes and enteropathy. It was established in 2016 as a new syndromic disorder caused by a gain-of-function mutation in the SAMD9 gene, which encodes a protein that suppresses cell proliferation. Due to the poor life prognosis, there are few reports on the long-term survival. Therefore, we herein report the clinical course of a 24-year-old male patient...