ESPE Abstracts

Background: Insulin resistance occurs in a variety of common endocrine disorders including obesity, type 2 diabetes, polycystic ovarian syndrome, and metabolic syndrome. Additionally, rare syndromes exist that result in extreme insulin resistance. These conditions help contribute to our knowledge of the mechanisms of insulin signalling and resistance.Objective and hypotheses: We report a case of a 12 year old female presenting to endocrinology clinic for...

Background: Severe insulin resistant (IR) type A is a rare inherited disorder characterized by glucose metabolism disturbances without obesity, acanthosis nigricans and hyperandrogenia due to INSR defects.Case report: A 10-year-old girl was admitted because of skin papillomatosis and hyperpigmentations since her 7 years. She had early puberty with pubarche at 8 years and telarche at 9 years. Examination revealed normal height and weight (SDS BMI...

Background: Arginine HCl infusion is commonly used in the diagnostic workup of GH deficiency. There is a paucity of data whether obesity and/or short stature modulate arginine plasma concentration and associated arginine-stimulated GH secretion following a weight-based arginine infusion protocol.Objective and hypotheses: To study whether auxiological parameters modulate the arginine plasma concentration profile and associated GH secretion in children und...

Background: The influence of growth hormone (GH) on the metabolism of prepubertal children with Kabuki syndrome (KS) was never investigated before. Kabuki syndrome (KS) is a rare syndrome, which is mainly characterized by mental retardation, short stature, specific facial features, obesity and hypotonia. This syndrome caused by a mutation in the KMT2D or KDM6A gene.Objective and hypotheses: In this prospective study we investigated the ...

Background: Primary generalized glucocorticoid resistance (PGGR) or Chrousos syndrome is a rare familial or sporadic condition caused by mutations in the hGR gene, which reduce tissue sensitivity to glucocorticoids. A new case of PGGR caused by a novel heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 in the ligand-binding domain of the receptor, was recently reported in a patient with an adre...

Background: IGF1R gene mutations have been associated with varying degrees of intrauterine and postnatal growth retardation, and microcephaly. We have previously reported three novel variants in the IGF1R gene: de novo p.Arg1256Ser, de novo p.Asn359Tyr and p.Tyr865Cys (ENDO 2013, OR20-2).Aim: To characterize the functional effects of the novel IGF1R gene allelic variants.Methods: In ...

Background: Congenital hyperinsulinism (CHI) is a rare condition but a significant cause of recurrent hypoglycaemia in infancy and childhood. Prompt recognition and appropriate management is important to avoid long-term neurological sequelae.Objective and hypotheses: To describe the presentation, clinical and genetic outcomes in a series of infants with CHI.Method: Retrospective case series of 35 patients diagnosed with CHI between...

Background: Adrenal insufficiency is an important and potentially life-threatening condition, and it is also known as a rare cause of hypercalcaemia.Objective and hypotheses: Resistant hypercalcemia may be associated with hypocortisolism.Method: A 18-day-old male infant was born at 36 weeks by emergency cesarean section for fetal distress and intrauterine growth retardation. He was referred to paediatric endocrinology because of th...

Introduction: The highest prevalence of children and adolescents with obesity in Europe is observed in the south countries. This epidemic is related to unhealthy eating patterns, decreased physical activity and increased inactivity.Objective: To determine the relationship between adiposity degree and physical activity and inactivity in children and adolescents.Methods: 338 children from 6 to 8 years of age (x=11.11 years);...

Background: Hyperinsulinaemic hypoglycaemia (HH) is characterized by the dysregulated secretion of insulin from the pancreatic β-cell. It is a major cause of severe and persistent hypoglycaemia in the newborn period. The rapid diagnosis and avoidance of recurrent episodes of hypoglycaemia are vital in preventing brain damage.Objective and hypotheses: To assess if the serum insulin measured at the time of hypoglycaemia in neonates with HH could be co...