ESPE Abstracts

Background: Measurement of salivary glucocorticoids is an accepted method for testing adrenal function and is gaining popularity as it offers a non-invasive collection technique, enabling sampling in the community or home environment, allowing tailored capture of steroid circadian rhythm and improved patient experience. However, there is little data on stability during home collection and sampling methods in young children. Current salivary collection techniqu...

Background: Optimisation of hydrocortisone replacement therapy remains challenging due to complex pharmacokinetics as circulating cortisol is protein bound mainly to corticosteroid-binding globulin (CBG) that has a circadian rhythm.Objective: A detailed analysis of the CBG circadian rhythm and its impact on cortisol exposure during hydrocortisone replacement therapy.Methods: CBG was measured over 24 h in 14 healthy...

Background: Prader–Willi syndrome (PWS) is caused by absence of expression of imprinted genes on the paternal chromosome 15 (15q11.2–q13) due to a paternal deletion, maternal uniparental disomy 15 and rarely an imprinting defect. The clinical signs of PWS are hypotonia, muscle weakness, excessive eating, morbid obesity, delayed global development, hypogonadism, and short stature. Marfan syndrome is caused by mutations in the FBN1 gene, located on chromosome ...

Background: Vitamin D Dependent Rickets Type IA(VDDR1a) is an autosomal recessive disorder characterized by defects in the biosynthesis of its active form 1,25 dihydroxyvitamin D due to the mutations in the CYP27B1 gene encoding for the enzyme 1α-hydroxylase.Objective and hypotheses: To evaluatethe clinical characteristics, molecular genetics aetiology and long-term outcome of a large nationwide cohort of VDDR-Ia f...

The calcium-sensing receptor (CaSR) is a member of the G protein coupled receptor family. It is mostly found in the parathyroid gland and renal tubule. CaSR disorders occur with inherited or acquired mutations. Familial hypocalciuric hypercalcemia syndromes are associated with inactivating mutations in CaSR. The heterozygous form is “benign familial hypercalcemia” and the homozygous form is “neonatal hyperparathyroidism”. In this article, “benign ...

Background: Despite advances in genetic diagnosis and surgical technique, and guidance from the Consensus Statement on Intersex Disorders, aspects of clinical management in disorders/differences of sex development (DSD) remain unsettled. Actively debated decision points include gender of rearing in specific syndromes, genital surgery prior to the patient developing the capacity to provide assent, and uncertainty over how and when to best educate young patients about diagnostic...

Background: The prevalence of childhood obesity is high worldwide and predisposes to adult obesity and metabolic disorders. Many dietary approaches have been proposed to reduce this prevalence, but no single diet has proven to be superior to others in terms of long-term weight loss maintenance in children.Objective and hypotheses: To evaluate and compare long-term body weight changes among obese children and adolescents who had lost at least 10% of their...

Children with Type 1 diabetes are experiencing higher levels of overweight and obesity as a consequence of intensive insulin therapy as well as background socioeconomic and environmental factors that are contributing to excess adiposity in the general population. The consequences of obesity in people with type 1 diabetes are of particular concern, as obesity in adults increases the risk of both diabetes-related and obesity-related complications, including cardiovascular diseas...

Introduction: The main purpose of the study was to determine whether anthropometric measurements at preschool (PS)-age, in which physiological adiposity rebound is detected, and LT4 dose have an effect on the age of onset of puberty in children with hypothyroidism.Methods: This is an observational and retrospective study.Results: Puberty had begun in 44 girls and 25 boys out of 115...

Brown adipose tissue (BAT) is a key component of the body's defence against cold challenge and possesses the ability to convert large amounts of chemical energy to heat, conferred by a unique protein, uncoupling protein (UCP)-1, diverting mitochondrial respiration from the production of adenosine triphosphate. In humans, the largest BAT depot is in the supraclavicular region. Sympathetic nervous system stimulation induces glucose uptake into brown adipose tissue, as does i...