ESPE Abstracts

Background: Obesity is a global epidemic and major health concern. Studies on insulin resistance and glucose abnormalities in European overweight/obese adolescents are rare.Aim: To study prevalence of insulin resistance, impaired glucose tolerance and type 2 diabetes mellitus in a cohort of overweight/obese adolescents. To determine correlations between patient characteristics and biochemical parameters of glucose homeos...

Background: Children and adolescents with obesity often have insulin resistance (IR) and are at increased risk to develop coronary heart disease (CHD) in adulthood. The triglyceride to HDL-cholesterol (TG/HDL-C) ratio reflects small, dense low-density lipoprotein (LDL), an atherogenic lipoprotein particle that strongly predicts CHD.Objective and hypotheses: To evaluate the TG/HDL-C ratio in obese children and adolescents and study the relationship with a...

Background: Despite the fact that pituitary stalk interruption syndrome (PSIS) is a frequent finding in children with combined GH deficiency (CGHD), clinical data are still limited and the growth response to GH treatment has not been evaluated in comparison with CGDH with a normal stalk.Objective and hypotheses: To report the clinical and hormonal findings and evaluate the short term growth response to GH in Belgian children with congenital non-syndromat...

Background: Variants in the estrogen receptor α (ESR1) have previously been described in male and female patients presenting with estrogen resistance. Estrogen resistance is characterized by delayed bone-age, early-onset osteoporosis, delayed puberty and multicystic ovaries in women. So far, no clinical consequences of variants in the estrogen receptor β (ESR2) have been reported in 46,XX patients, although ESR2 variants have previously been implicated in 46,XY DSD p...

Background: The new preventive child health care guideline for referral of short/tall children facilitates early detection of growth disorders. Understanding the impact of early treatment initiation on recombinant human growth hormone (rhGH) adherence and catch-up growth can support the use of the guideline.Aim: To evaluate the impact of age at rhGH treatment start on adherence (≥85% vs <85% of prescribed doses...

Introduction: In rare cases of obesity, genetic defects lead to hyperphagia and severe early-onset obesity. Genetic testing in patients with a suspected genetic obesity phenotype is important, as it can lead to patient-tailored treatment advice. For children, the Endocrine Society (ES) recommends genetic testing in children with early-onset of obesity (<5 years) and hyperphagia. It is unclear whether these recommendations can also be used in adult obesity c...

Disorders of sex development (DSD) are a group of congenital developmental disorders in which the chromosomal, gonadal, or anatomical sex is atypical. The clinical diagnosis and management of DSD are difficult and complex because of the various aetiology and diverse manifestation. The project ‘Genetics of Human Disorders of Sexual Development’ is funded by Swiss National Science Foundation and fulfilled by the University of Geneva Medical School (Switzerland), the Me...

Background: The XX male syndrome – Testicular Disorder of Sexual Differentiation (DSD) is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male genitalia. The project ‘Genetics of Human Disorders of Sexual Development’ is funded by Swiss National Science Foundation and fulfilled by the University of Geneva Medical School, the Medical Centers from Armenia, Poland and Ukraine. The goal is to identify mutation...

Background: The purpose of this study was to analyse characteristics and evaluate the effectiveness and safety of treatment with recombinant GH (rGH) in children with idiopathic short stature (ISS).Method: Patients (n=54) were evaluated prospectively. Treatment was received by 27 patients with ISS during 1 year. The administration was done by the accepted methodology. The effectiveness of treatment was evaluated based on change in growing speed,...

Background: The annual worldwide incidence of childhood adrenocortical tumors (ACT) ranges from 0.3 to 0.38/million children below the age of 15 years. Only 1–2% of them are feminizing ACT occurring in prepubertal boys and presenting with gynecomastia that normalizes after tumor removal.Case report: We present a case of a feminizing ACT. The boy was referred for bilateral gynecomastia, appeared 6 months before, at the chronological age (CA) of 7.5 y...