ESPE Abstracts

Background: Hereditary hypophosphatemic rickets with hypercalciuria(HHRH; OMIM: 241530) is a rare autosomal recessive disorder,which is the result of loss-of-function mutations in the sodium-phosphate-cotransporter NPT2c.This disorder is characterized by renal phosphate(Pi) wasting,hypercalciuria,increased 1,25 (OH)2-D levels and decreased parathormone(PTH) levels.Here we report the clinical features of two siblings with HHRH,confirmed with molecula...

Context: Severe vitamin D deficiency may lead to myopathy in adults. Little is known about vitamin D and muscle strength in children.Objective: To test whether hand grip strength (HGS) in 5-year-old-children associates with serum 25-hydroxyvitamin D (s-25OHD) from pregnancy to 5 years.Methods: Observational study in the population-based Odense Child Cohort, Denmark. At 5 years, anthropometrics, body fat percentage by skin fold meas...

Background: Wolcott-Rallison syndrome (WRS) is a rare recessively inherited disorder characterized by insulin-dependent diabetes and multiple epiphyseal dysplasia. The disease is also characterized by recurrent episodes of hepatitis or hepatic failure, growth retardation and developmental regression. WRS is caused by biallelic mutations in EIF2AK3, encoding the eukaryotic translation initiation factor-2 kinase 3 (IEF2AK3). EIF2AK3 regulates the synthesis of u...

Background: The exposure to environmental toxicants has been estimated to contribute directly to 3% of human neurodevelopmental disabilities (NDDs). Organochlorine pesticides (OCPs), which are widespread persistent organic pollutants, have been implicated mainly because of their endocrine disruptive nature. Several studies have reported the above relations between maternal serum, the placenta barrier and the breast milk levels of OCPs and NDDs.Aim: The a...

Background: Angiopoietin-2 is a growth factor involved in the pathophysiology of different vascular and inflammatory diseases such as arteriosclerosis. Carotid or aortic scans provide non-invasive screening tools for assessment of preclinical atherosclerosis in high-risk children.Aim: We assessed serum angiopoietin-2 in children and adolescents with type 1 diabetes mellitus as a potential marker for diabetic vascular complications in relation to glycemic...

Background: Growth impairment is a known complication of sickle cell disease (SCD). Effects of hydroxyurea (HU) on growth in older children with SCD have never been reported.Objective and hypotheses: This study was done to explore the potential effects of HU on growth parameters of older children with SCD and correlate these changes with clinical improvement.Method: A prospective study was conducted on 97 SCD patients started on HU...

Background: Robot assisted therapy has the potential to provide emotional and educational support to young patients with type 1 diabetes (T1DM).Objective: To investigate the attitudes of children and young people with T1DM and that of their parents towards the concept of utilising a humanoid robot as an assistant in the management of their diabetes.Methods: A humanoid robot programmed to help self-management of T1DM at home was int...

Background: Pituitary hormone deficiency combined type 3 (CPHD3; MIM# 221750) is an autosomal recessive combined pituitary hormone deficiency caused by mutations in LHX3, a LIM-homeodomain transcription factor gene which is necessary for the normal pituitary and motorneuron development.Aims: Clinical manifestations of CPHD3 are pituitary dwarfism and might be accompanied by rigid cervical spine leading to limited neck rotation or sensorineural deafness. ...

Background: In infants, less than 1-year JGCT is extremely rare, with very few reported cases in the literature.Case Report: This 9-month old girl, presented with a day history of bloody vaginal secretions, with an increase in breast size bilaterally 2 months before presentation and growth of fine hair in the genital area. She had no skin hyperpigmentation, no skeletal abnormalities, and no dysmorphic features. On examination, the girl had no dysmorphic ...

Preterm babies born to non-diabetic mothers (INDM) who experience significant hypoglycemia may have postnatal growth abnormalities. This study evaluated the growth pattern from birth to the age of 2 years of 40 INDM who were born at or near term with significant hypoglycemia. Anthropometric measures (z scores) from birth, 2,4.6,12,18 and 2 years were measured in 40 INDM who presented with significant neonatal hypoglycemia (plasma value less than 20-25 mg/dl (1.1-1.4 mmol/l) th...