ESPE Abstracts

Background: Glypican-4 is a heparan sulphate proteoglycan. In addition to a membrane-bound glypican-4, a soluble form exists. Human and rodent adipose tissue were identified as source of circulating glypican-4. Glypican-4 serum levels are associated with obesity and insulin resistance, as in type 2 diabetes (T2D). Because of its positive effect on insulin sensitivity, glypican-4 might play a role in the development of obesity, insulin resistance, and T2D. We a...

Background: Pseudohypoparathyroidism is a rare congenital disorder presenting with variable symptoms and features. Since 2016 a new international nomenclature subclassifies the different forms of pseudohypoparathyreoidism as inactivating PTH/PTHrP signalling disorders (iPPSD). Pseudohypoparathyreoidism 1A (iPPSD2) and 1B (iPPSD3) are mainly characterized by resistance of parathyroid hormone (PTH) with high serum PTH levels and thyrotropin (TSH) resistance. In ...

Background: Primary care pediatricians (PCPs) use thyroid function tests (TFT) as screening tests in children and adolescents with various health complaints. Thus, it is crucial to evaluate the results according to appropriate cut-offs individualized to the child characteristics. Such references values, which are missing in the pediatric age group, are needed for proper evaluation of the thyroid functions.Objective and hypotheses: To determine normal TSH...

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...

Introduction: Delayed or absent puberty is thought to be common in boys with Duchenne Muscular Dystrophy (DMD).Objective: To evaluate testicular development, function and puberty in DMD in a 12 months prospective longitudinal study.Methods: Thirty-four boys had assessment of puberty and testes volume by a single endocrinologist. Testes volumes were converted to Z-scores adjusted for bone age. Boys were divided into group A [Baselin...

Background: There is little information on growth and fractures in boys with Duchenne Muscular Dystrophy (DMD).Objective & hypotheses: To determine the extent of growth & skeletal morbidity in a contemporary cohort of DMD in the UK.Method: Clinical details of 832 boys with DMD in the North Star database (2006–2015) from 23 centres were analysed following categorisation into five age groups: A:<5 years (n, ...

Background: Diabetic dyslipidaemia is characterized by high triglycerides (TG), low HDL cholesterol (HDL-C) and the presence of small, dense LDL. The UK National Paediatric Diabetes Audit (NPDA) 2013/14 reported that 16.1% of children and young people (CYP) with type 1 diabetes mellitus (T1DM) have a total cholesterol (TC) of ≥ 5 mmol/l. TG, LDL and TC-HDL-C were not reported in the NPDA. The significantly high prevalence of hypercholesterolemia in CYP with T1DM is conce...

Background: Androgen insensitivity syndrome (AIS) is a rare disease due to end organ resistance of androgens. AIS is commonly caused by the mutations of androgen receptor (AR) gene located on chromosome Xq11-12. The mode of inheritance is hemizygous, where males get severely affected and females remain as carriers.Objective and hypotheses: Here, we describe the Phenotype–Genotype correlation and gender identity of pubertal and post pubertal...

Background: Measuring testicular volume (TV) by orchidometer is a standard method of pubertal staging in boys. A paucity of evidence exists as to its inter and intra-user reliability and the impact of clinicians’ gender, training and experience on the accuracy of measurements.Objective and hypotheses: We engineered prosthetic models of different size testes to investigate the reliability of TV estimation.Method: The study was ...

Context: Central precocious puberty (CPP), treated or untreated, may have clinical implications in adulthood.Objective: To assess the general health status and metabolic outcome of former CPP women between the third and fifth decades of life.Design: Case–control study of an historical cohort using the computerized database of a health management organization.Participants: Study group – 148 CPP women...