ESPE Abstracts

Background: Medulloblastoma accounts for about 10% of pediatric brain tumor, and about 60 to 100 cases occur in Japan per year. After tumor removal, chemotherapy and radiation therapy including craniospinal irradiation (CSI) are performed. Since the irradiation range of CSI includes hypothalamus, pituitary gland, thyroid, ovaries, and spine, it is known that endocrine deficiency and growth disorders are frequent as late effects. In this study, we aim to highli...

Background: Brown adipose tissue (BAT) was thought to exist only from birth to infancy and not in adults. However, it has recently been found to be present in adults as well, drawing significant attention as a target for anti-obesity drugs due to its characteristic of energy expenditure independent of exercise. ACE2 converts Angiotensin II (AngII) to Angiotensin 1-7 and antagonizes the ACE/AngII system through Mas receptor. We have previously reported that adm...

Case: An 8-year-old boy with Down syndrome. He was born at 36 week of gestation, birth weight was 1668 g (-2.5 SD). He complicated transient hyperinsulinemia (THI) treated with diazoxide for 2 months and hypothyroidism continuing treatment with levothyroxine. He was not detected transient abnormal myelopoiesis at neonatal period. He was diagnosed with precursor B-cell acute lymphoblastic leukemia (ALL) at age 8 years and started chemotherapy with a steroid, an...

Background: Monostotic Fibrous Dysplasia (MFD) is thought to be caused by somatic mosaic activating mutations in GNAS. However, previous GNAS mutation analyses of MFD patients using direct sequencing of bone samples detected activating GNAS mutations only in 21 of 40 cases (52.5%) (Hum Pathol 2012; 43: 1234). We reported that next generation sequencing (NGS) detected somatic activating GNAS mutations sensitively from peripheral bloo...

Background: The type I IGF1R plays a role in intrauterine and postnatal growth. Heterozygous IGF1R mutations have been identified in over 20 families. Some of them are linked to the etiology of short stature in previous studies. In addition, we previously reported that a heterozygous nonsense mutation (p.Q1250X) of the IGF1R gene led to decrease IGF1R protein expression through endoplasmic reticulum-associated protein degradation (ERAD) mechanism, resulted in...

Background: N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG) is a recently established rare autosomal recessive disease caused by pathogenic variants in NANS involved in the biosynthesis of N-acetylneuraminic acid (the most common member of sialic acids). Sialic acids are ubiquitously distributed in the body including the brain and skeletal system, and are required for the development and function of multiple organs/tissues. C...