ESPE Abstracts

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: Testosterone enanthate (TE) therapy was established for children and adolescents with male hypogonadotropic hypogonadism (c/a MHH). However, the effect of TE therapy on adult height (AH), genital maturation, and bone mineral density (BMD) in c/a MHH has not been described well.Objective: To assess the effect of TE therapy in c/a MHH on the achievement of genetic height potential, pubertal development, and bon...

Background: Most infants with persistent hyperinsulinaemic hypoglycaemia (PHH) are born large for gestational age (LGA) due to excessive anabolic effect of prenatal hyperinsulinism. However, other auxological characteristics than weight in infants with PHH have not been described well.Objective: The objective of this investigation was to characterize anthropometric parameters at birth (weight, length, and head circumference) in PHH compared with those in...