ESPE Abstracts

Background: The usefulness of corticotrophin (ACTH) test in diagnosis of 21-hydroxylase deficiency and/or other enzymic defects in children and adolescents with serum levels of 17-OHP (before 2000 h) >2 ng/ml is known.Objective and hypotheses: To evaluate the usefulness of ACTH test in diagnosis of non-classical congenital adrenal hyperplasia (NCCAH) and heterozygosity of CYP21 gene molecular defects in children and adolescents with clinical hyperand...

Background: HSD3B2 is a rare cause of autosomal recessive primary adrenal insufficiency, potentially associated with under virilisation of XY males and virilisation of XX females. We present a case of a male infant presenting at term with ambiguous genitalia (DSD) with underlying diagnosis confirmed biochemically and genetically with a novel mutation of HSD3beta2.Objective: Case report.Patients and methods: Baby was born as FTND wi...

Background: Dystrophinopathies, including Duchenne (DMD) and Becker (BMD) muscular dystrophy, are X-linked muscle wasting disorders caused by mutations in the dystrophin gene. Dystrophin deficiency compromises functional integrity of the muscle fibers leading to progressive weakness, accompanied by a gradual bone loss.Objective and hypotheses: This study’s goal was to evaluate the effect of whole body low magnitude vibration (WBLMV) on timed motor p...

Background: Despite extensive evidence in adults that lifestyle modification, including a healthy diet, may prevent the onset of type 2 diabetes, studies examining the impact of chronic dietary exposures on insulin dynamics in at-risk children are lacking.Objective and hypotheses: To assess how dietary intake predicts insulin sensitivity and secretion over a 2-year period in children with a family history of obesity.Method: Data st...

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 ...