ESPE Abstracts

Background: The calcium-sensing receptor (CaSR) regulates calcium metabolism by modulating PTH secretion, as well as by direct effect on osteoblasts and osteoclasts, balancing bone formation and resorption. Loss-of-function heterozygous mutations on CASR gene can lead to Familial Hypocalciuric Hypercalcemia (FHH; OMIM #145980), a benign autosomal dominant condition of undefined incidence. Dysplasia Epiphysealis Hemimelica (DEH; OMIM #127800) is a rare...

Thyroid hormone is the only hormone for which all babies are screened at birth. This is because it has been known for decades that the consequences of thyroid hormone insufficiency during postnatal development, cretinism, are severe and irreversible. However, the last 15 years have witnessed major, and unexpected, insights how thyroid hormone acts during prenatal brain development across vertebrates. For instance, even mild maternal hypothyroidism or hyperthyroidism during ear...

Embryos initially form undifferentiated gonads, reproductive tracts and external genitalia that will progressively acquire female or male characteristics. This fate decision is initiated in the undifferentiated gonads and depends on sex chromosomes and fine-tuned expression of complex networks of molecular pathways. Defects at different levels of this cascade of events can trigger a large spectrum of Disorders of sex development (DSDs), defined as “congenital conditions w...

X-linked hypophosphatemia (XLH) is characterized by excess FGF 23, hypophosphatemia, skeletal deformities, and growth impairment. Due to the lack of large-scale and long-term observational studies, not enough evidence has been accumulated to gain consensus on optimal care. A longitudinal, observational cohort study (SUNFLOWER) was initiated in Japan and South Korea to clarify the course of XLH; delineate its physical, mental, and financial burdens; and collect information on t...

Background: The Scottish Paediatric Endocrine Managed Clinical Network is committed to providing equity of care across Scotland. A key role identified by the nurses group is developing information leaflets supporting patient care. It was recognized that there was no local unified approach to the management of adrenal insufficiency, especially in the home, community and acute setting. Of particular concern was the lack of a pathway of care from home to hospital and involvement ...

Background: The Scottish Paediatric Endocrine Managed Clinical Network is committed to providing equity of care and education across Scotland. A key role is the education of health care professionals and how this is delivered. An extensive survey using a Learning Needs Analysis Tool was completed to ascertain learning needs and their delivery across Scotland. This highlighted the desire to have online learning available to health professionals.Objective:...

Objective: Determining the cause of early obesity in children is of paramount importance for early and efficient treatment, including novel targeted pharmaceutical treatment options (e.g. MCR4 agonist). Here, we report findings from diagnostic whole exome sequencing of children with obesity, identifying genetic variants both within and outside the leptin-melanocortin pathway associated with obesity. These findings provide valuable insights for informe...

Background: Insulin degludec (IDeg; Tresiba®) is a novel basal insulin with an ultra-long, flat and stable action profile. In adults, it provides a more consistent glucose-lowering effect and lower rates of hypoglycaemia than glargine (IGlar). Data on children and adolescents are scarce.Objective and hypotheses: To assess efficacy of IDeg among children and adolescents affected by type 1 diabetes (T1DM) previously on IGlar.Met...

Background: The cardiovascular risk for children receiving treatment with GH has hardly been investigated. Therefore, we studied the relationships between GH treatment and carotid intima media-thickness (IMT), which is predictive for the cardiovascular diseases.Methods: We measured carotid IMT (four values) in 100 children (mean age 11.6±2.8 years, 63% male) treated with GH (GH deficiency 61%, SGA 31%, Turner syndrome 5%, SHOX deficiency 2%, Prader-...

Background: Dyslipidaemia is a well-known risk factor in developing cardiovascular disease (CVD) already in childhood.Objective and hypotheses: To investigate the clustering of cardiovascular risk-factors (anthropometric parameters, blood pressure and metabolic abnormalities) in different type of dyslipidaemia in children and adolescents.Method: All the subjects aging 2–18 years referred for dyslipidaemia to our endocrine outp...