ESPE Abstracts

Hypogonadotropic hypogonadism is characterized by low levels of gonadotropins and delayed or absent sexual development. Most of the patients reach the diagnosis in late adolescence or in adulthood. A timely, appropriate diagnosis implicates a better clinical outcome and treatment timing. We describe the clinical case of a 15-year-old girl with primary amenorrhea. Stature and weight were in accordance with mid parental height; Tanner stage: PH2 B1. FSH, LH, oestradiol showed pr...

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...

Background: Klippel–Feil syndrome (KFS) is characterized by congenital fusion of cervical vertebrae and has a prevalence of 1:50 000. The phenotypic expression is variable, sometimes presenting with extraskeletal symptoms.Case report: A girl was referred at the cronological age (CA) of 10.3 years with a suspected diagnosis of Turner syndrome, due to the presence of webbed neck and progressive deceleration of growth velocity. The girl, born in Russia...

Background: SHOX deficiency is a frequent cause of short stature. GH therapy has been approved for growth promotion in individuals with SHOX mutations by FDA and EMEA.Case report: Three patients with Leri-Weill syndrome (LWS) started GH therapy at different chronological ages (CA). Patient 1 started GH+LHRHa at the CA of 13.4 years, height 148.4 cm (−1.5 S.D.), Tanner stage 4, bone age (BA) 13 years. Target height (TH) 160.5 cm (&#87...

Background: Pubertal timing is influenced by a complex interaction among genetic, nutritional, environmental and socioeconomic factors. Over the past 30 years a trend in pubertal timing anticipation has been demonstrated. Environmental factors involved in this phenomenon are mainly represented by endocrine disruptors compounds (EDCs), such as pesticides, industrial compounds and persistent organic pollutants, estrogens and phytoestrogens.Objective and hy...

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: 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...