ESPE Abstracts

Background: Gonadectomy is generally postponed until early adulthood in complete androgen insensitivity syndrome (CAIS) and close surveillance of gonads in situ proposed in males with partial AIS (PAIS). Delaying gonadectomy further is controversial given the lack of data regarding germ cell cancer (GCC) development in adulthood and the absence of biomarkers for noninvasive GCC screening.Aims and objectives: To study the prevalence of invasive G...

Background: The aetiology of congenital hypopituitarism (CH) is unknown in the majority of patients. In our cohort of 200 cases, it was possible to establish the genetic cause in only 13 patients (6.5%). Copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology.Objective: To study the presence of CNVs and its relevance in patients with CH of unknown cause associated with complex phenotypes.<p...

Background: Congenital diabetes insipidus (DI) can be due to mutations in the arginine vasopressin (AVP) gene (familial neurohypophyseal DI), the AVP receptor type 2 (AVPR2) or aquaporin 2 (AQP2) genes (congenital nephrogenic DI, NDI). The clinical manifestation of congenital NDI, especially the response to AVP, can vary greatly depending on the functional effect of the AVPR2 mutation. Here we present two male siblings with NDI and partial response to ddAVP.<p class="abste...

Objective: KIGS (Pfizer International Growth Survey) was a large, international database of pediatric patients who received recombinant human growth hormone (rhGH) as prescribed in real-world clinical settings. This analysis evaluated the long-term safety and efficacy data from all participants until KIGS close in 2012.Methods: Children with growth disorders and treated with rhGH (Genotropin® [somatropin]...

Aim: Childhood obesity has become extremely important issue worldwide. The aim of this study was to determine associations between data from bioimpedance analysis with the antrophometric measurements and biochemical results obtained from children and adolescents with severe obesity.Study population and Methods: Study group consisted of 128 children recruited in four regional reference centers including 70 girls (54.7%) a...

It is estimated that 1-5% of children and adolescents in Europe suffer from severe obesity (corresponding to an adult BMI > 40 kg/m2). However, in risk stratification, the occurrence of metabolic complications is more important than BMI itself. The study aimed to assess the occurrence of cardiovascular risk factors in a cohort of children and adolescents with severe obesity.Patients and Methods: The analysis included 140 patients (75 ...

Background: Fatty liver disease in children and adolescents is the most common cause of chronic liver disease in many countries. Criteria for a diagnosis of pediatric metabolic associated fatty liver disease (MAFLD) are based on hepatic steatosis in ultrasound, blood biomarkers or liver biopsy in association with one of the three criteria: excess adiposity (overweight, obesity or abdominal obesity), prediabetes or type 2 diabetes, or evidence of metabolic dysr...

Aims: The aimof this study was to investigate the prevalence and risk factors of MAFLD in severely obese polish children and adolescents.Patients and Methods: Data were collected in four Polish medical centers as a part of the project "Prevalence of monogenic obesity among Polish children and adolescents with severe obesity" (funded by National Science Center, Poland (2021/41/B/NZ5/01676)). Inclusion criteria f...

Background: Obesity is characterised by excessive fat accumulation coursing with a chronic mild inflammatory state, with adipose tissue (AT) being the main site of increased systemic cytokine production. Increased adiposity early in life is the main risk factor for cardiometabolic disorders later in life, with the abnormal accumulation of lipids in AT leading to the production of pro-inflammatory cytokines. Inflammatory process that involves metabolic and card...

Background: Lipodystrophy syndromes comprise a large group of extremely rare diseases characterized by loss or dysfunction of adipose tissue. Due to their extreme rarity and variability, research in the field of lipodystrophy is difficult for single centres warranting larger co-operations.Methods: Therefore, the European Consortium of Lipodystrophies decided to found an international registry in 2016. This registry is ba...