ESPE Abstracts

Background: Skeletal dysplasias are a heterogeneous group of more than 200 disorders characterised by abnormalities of cartilage and bone growth, resulting in abnormal shape and size of the skeleton.Case presentation: We present two children (brother 7 years and sister 11 years), investigated for growth retardation, part of five children brotherhood from apparently healthy non-consanguineous couple (mother’s height=158 cm and father’s height=16...

Background: It is debated whether oral glucose tolerance test (OGTT) should be routine in child obesity units to identify high risk individuals for impaired fasting glucose (IFG) or impaired glucose tolerance (IGT).Aims: To investigate the prevalence of some signs of metabolic syndrome in child obesity.Methods: All consecutive newly referred obese children (BMI>30) at a Swedish university unit were evaluated with fasting glucos...

Dyslipidemia is one of the major risk factors for cardiovascular disease in diabetes mellitus. The characteristic features of diabetic dyslipidemia in adults are a high plasma triglyceride concentration, low HDL cholesterol concentration and increased LDL cholesterol. Dyslipidaemia in children with type 1 diabetes mellitus (T1D) have been little studied (P. Lozano et al., 2016; J. D. Schofield et al.,2016; M. Kinoshita et al., 2018; C.Elkins et al., 2019). DECODE studies (Diab...

Background/aims: Primary IGF1 deficiency (IGFD)’ is defined by low levels of IGF1 without a concomitant impairment in GH secretion in the absence of secondary cause. The aims of this study were to evaluate the prevalence of non-GH deficient IGFD in prepubertal children with isolated short stature (SS) and to describe their response to GH therapy.Methods: This retrospective study included all children with isolated S...

Objective: To explore the clinical manifestation of a case of hereditary hypophosphataemic rickets with hypercalcuria (HHRH), describe a potentially novel mutation and identify key learning points in the diagnosis and management.Background: Inherited forms of hypophosphoatameic rickets such as XLH have phosphaturia, often mediated by elevated FGF-23 levels and low or inappropriately normal 1,25 OHD levels. Conversely, in...

Background: Septo-optic dysplasia (SOD) is characterized by two or more features of the triad: optic nerve (ON) hypoplasia, middle brain defects and pituitaty deficiencies. Pituitary Stalk Interruption Syndrome (PSIS) presents as a lack of a visible pituitary stalk and/ or no eutopic posterior lobe hypersignal in the shallow sella turcica. Both conditions usually result in hypopituitarism. The diagnosis is based on clinical signs and MRI findings; only small n...

Introduction: Propionic Acidaemia (PA), an organic acidaemia, is characterized by episodes of decompensation with severe metabolic acidosis and hyperammonaemia. PA is associated with low bone mineral density and osteoporosis. Hypocalcaemia is known to occur in 35-65% of decompensations, however the underlying pathophysiology remains unclear. PTH resistance has previously only been described in one case of hypocalcaemia in PA and we report the first use of ...

Background: A few patients with NS have been reported to harbour pathogenic mutations in LZTR1 gene. RAS regulation by LZTR1-mediated ubiquitination provides an explanation for the role of LZTR1 in human disease. Mutations in this gene could hence lead to NS phenotype. Three patients with mutations in this gene and compatible NS phenotype are herein described.Case 1: A 5 year-old boy with bilateral cryp...

Background: Severe hypertriglyceridemia, defined as triglyceride concentration greater than 11.2 mmol/L, predisposes to acute pancreatitis, a serious complication with mortality rate as high as 6.5% in children (1).Our case highlights the use of insulin infusion to rapidly lower the triglyceride level and the long term management in a young infant with familial chylomicronemia syndrome (FCS) due to lipoprotein lipase deficiency.<stro...

Background: Lipodystrophies are a group of rare disorders characterized by varying degrees of body fat loss. The metabolic abnormalities associated with lipodystrophy include insulin resistance, often leading to diabetes mellitus, hypertriglyceridemia that may be severe enough to cause acute pancreatitis and hepatic steatosis that may lead to cirrhosis.They can be either genetic or acquired, generalized or partial. Acquired generalized l...