ESPE Abstracts

Gestational Diabetes (GDM) increases risk of developing type 2 diabetes in the mother and child later in life however, despite the increasing prevalence of GDM, its molecular mechanism remains unknown. A recent Genome-Wide Association Study (GWAS) identified a unique genetic association of the novel 5th hexokinase, hexokinase domain component-1 (HKDC1) to gestational glucose tolerance at 28 weeks of gestation linking it to GDM. We have previously shown that liver-specific over...

Introduction: DAX1 (NROB1) mutation, that is among the causes of primary adrenal insufficiency; is revealed with X-linked congenital adrenal hypoplasia and hypogonodotropic hypogonadism. Growth hormone (GH) deficiency is not common in affected individuals. In the literature, there are few cases of GH treatment . growth hormone therapy in two cases with DAX1 gene mutation were evaluated in clinical features and treatment responses.<strong...

Background: Both CYP24A1 and SLC34A1 gene mutations are responsible for idiopathic infantile hypercalcemia (IIH). Whereas loss-of-function mutations in CYP24A1 (25-OH-vitamin D-24-hydroxylase) lead to a defect in the inactivation of active 1,25(OH)2-vitamin D3, mutations in SLC34A1 encoding renal sodium-phosphate co-transporter NaPi-IIa lead to primary renal phosphate wasting combined with an inappropri...

Objective: We aimed to investigate the usefulness of abdominal adiposity and total body fat as predictors of cardiometabolic health, especially insulin sensitivity, in children and adolescents.Methods: Participants were 479 children and adolescents with obesity (322 boys and 157 girls) aged 3 to 18 years attending the Children's Hospital at Zhejiang University School of Medicine (Hangzhou, China). Participants underw...

Background: There is a small proportion of children born SGA without postnatal catch-up growth who are presented with persistent short stature, low BMI, and decreased lean body mass (LBM). Data on body composition are rarely reported in the literature. Our study addresses the question whether human recombinant GH treatment could affect body composition in these SGA children or not.Design: We included 58 SGA children (n=20 females) with SGA (birt...

Background: Adolescents with cerebral palsy (CP) have decreased muscle mass resulting in impaired mobility and osteopenia. There is a void in therapeutic interventions aimed at increasing muscle mass, muscle function as well as osteopoenia in this population. Whole body vibration training (WBVT) has the potential to fill this therapeutic void by maintaining/increasing muscle mass and bone mineral accrual during growth.Objective and hypotheses: We aimed t...

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Background: Hypoxia represents a main risk factor for acquired brain injuries and neurological disabilities in premature and full-term infants. Stabilization of hypoxia-inducible transcription factors (HIF) is one of the most important adaptive mechanism modulating the degree of hypoxic-ischemic brain lesions due to cellular adaptation to reduced oxygen concentrations. Additionally, neuro-protective effects of GH and GH-induced neurotrophic factors are evident as shown by prev...

Introduction: 6 Mercaptopurine (6MP) is a cornerstone of maintenance therapy in pediatric acute lymphoblastic leukemia (ALL). Fasting hypoglycemia is a rare side effect of 6MP therapy that has been observed in children being treated for ALL. We present two pediatric patients who developed symptomatic, fasting hypoglycemia during maintenance therapy.Case Description: A 7-year-old male with standard risk B ALL receiving ma...

Background: Disorders/Differences of Sex Development (DSD) is diagnosed in approximately one out of 4'500 newborns. Children born with DSD present with a very diverse phenotype and they and their families face considerable challenges, potentially including surgical intervention and gender assignment, as well as associated complications such as infertility and predisposition to gonadal tumors. Due to the lack of knowledge concerning the complete gene and pr...