ESPE Abstracts

Background: Severe GH deficiency (GHD) leads to several metabolic effects in the body ranging from abnormal body composition to biochemical disturbances such as high insulin sensitivity. However, less is known regarding these parameters in children with a milder deficiency in GH secretion.Objective and hypotheses: To analyse if short children with a relatively low GH secretion differ metabolically from healthy children of normal height.<p class="abst...

Background: IGF1 is the key effector peptide in the control of normal growth. IGF1 deficiency in the presence of normal GH is associated with growth failure. This may be caused by primary defects in the GH-IGF1 axis or by conditions such as malnutrition or chronic inflammation. Severe primary IGF1 deficiency (height <−3 S.D., serum IGF1 <2.5th centile, GH normal) is an European Medicines Agency (EMA) licensed indication for rhIGF1 therapy. We repor...

Background: It has been suggested that maternal prepregnancy overweight has an effect on childhood overweight.Objective: We aimed to use a survival analysis approach to investigate the association between maternal prepregnancy overweight and childhood overweight in the prospective Ulm Birth Cohort Study (UBCS).Design: At baseline n=1086 mothers and their newborns agreed to participate in the UBCS. Weight and height values ...

Bacterial infection of the thyroid gland (acute suppurative thyroiditis, AST) is a very rare condition, particularly in children, as the thyroid gland is extremely resistant to infection. AST presents with painful tender mass in the anterior neck and is usually associated with fever, sore throat, dysphagia and limitation of the neck movements. In the most cases the left globe is affected. Common laboratory findings are leukocytosis, elevated erythrocyte sedimentation rate (ESR...

Introduction: Disorders of sex development (DSD) refer to a group of conditions, including Turner syndrome in which an individual's physical sex characteristics do not conform to typical male or female patterns, including a range of differences in chromosomes, hormones and anatomy. Gender-specific problems are usually not prominent, compared to other forms of DSD. Gender dysphoria (GD) is a discomfort between a person’s assigned sex based on physica...

Introduction: Cardiovascular disease (CVD) is the major cause of morbidity and mortality in type 1 diabetes (T1D). Recent studies implicated deregulated phosphate homeostasis in the etiology of CVD. The objective of this study is to address the relationship between the phosphate-regulating hormone fibroblast growth factor 23 (FGF23) and cardiovascular risk factors in adults with and without type 1 diabetes (T1D).Methods:...

Background: The prevalence of atypical genitalia and the time taken to assign sex in such cases remains unclear. Provision of optimum healthcare during this period requires a clear understanding of the occurrence of atypical genitalia.Methods: Prospective electronic survey of clinical members of managed clinical networks in Scotland between 2013 and 2018 seeking notification of term neonates requiring specialist input fo...

Background: In a large fraction of patients with clinically presumed Androgen Insensitivity Syndrome, no mutation of the Androgen Receptor gene can be detected. However, established Sanger sequencing techniques of the AR gene are often limited to the coding region.Objective and Hypotheses: To set up a next generation sequencing (NGS) approach of the entire AR locus (including UTRs, exons, introns, up- and downstream regions) for a comprehensive ...

Objectives: Continuous subcutaneous insulin infusion (CSII) has been associated with lower HbA1c. To explore whether CSII initiation leads to HbA1c improvement in each individual with type-1 diabetes and to identify co-variates which might influence change in HbA1c.Methods: 5,040 pediatric type-1-diabetes subjects (δ20 y, 49% boys, median age at diabetes onset [Q1;Q3]: 5.9 [3.5;8.4] years) ...

Background: The Low dose dexamethasone suppression test (LDDST) is an important investigation for suspected Cushing’s Syndrome (CS). The traditional definition of normal suppression of serum cortisol to ≤50 nmol/l during the LDDST (0.5 mg 6 hrly × 48 h) comes from a time when biochemical autoanalysers did not routinely detect very low values. Previous studies reported 5.1–8.3% of patients with Cushing’s Disease (CD) suppressed to <50 nmol/l at 48 ...