ESPE Abstracts

Introduction: Hypopituitarism has been reported to be associated with lower quality of life (QoL), marital rates, and sex-life satisfaction in adulthood in patients with GH deficiency. Very few studies have examined this in those with childhood-onset multiple pituitary hormone deficiency (COMPHD).Aims: To evaluate QoL in adults with COMPHD.Subjects and methods: All COMPHD patients aged (≥18 years were identified from medical ...

Background: At a population level, increasing age/sex corrected BMI Z-score (BMI-Z) is associated with increased risk of complications. It is unclear whether severity of obesity is a good predictor of comorbidities within groups of obese children. This knowledge is required to inform clinical management and pathways of care.Objective and hypotheses: In obese youth, to identify whether 1 increasing BMI-Z+/− waist/height ratio(WHtR) is associated wit...

Background: Emerging evidence suggests FTO polymorphisms are associated with obesity-related comorbidities including type 2 diabetes (T2DM), hypertension and polycystic ovarian syndrome (PCOS). However association of FTO with other comorbidities such as obstructive sleep apnoea (OSA) in paediatric populations is less clear.Objective and hypotheses: To investigate the prevalence of obesity-related comorbidities according to FTO genotype in an obese paedia...

Introduction: Although short stature is common in boys with Duchenne Muscular Dystrophy (DMD), little information on body proportions and the GH/IGF-1 axis exists.Methods: Total height (Ht), sitting height (SH), leg length (LL) and bone lengths (femur, tibia, humerus) in boys with DMD (n=30) and healthy boys (n=79) were measured using DXA digital images by 1 observer. Insulin growth factor-1 (IGF1), IGF binding protein-3 (IGFBP-3) and a...

Background: Generalized lymphatic anomaly (GLA) is a rare congenital disorder characterized by aggressive proliferation of dilated lymphatic vessels. The etiology of GLA is poorly understood.Objective and hypotheses: To identify the underlying genetic basis for GLA.Method: Exome sequencing (ES) was performed in two families, including a multigenerational family (family-1) with six affected members. RNA-seq was performed on skin bio...