ESPE Abstracts

Background: Congenital leptin deficiency (CLD) is characterized by severe early-onset obesity due to hyperphagia and impaired satiety. The impact of obesity in obstructive sleep apnoea hypopnoea syndrome (OSAHS) was originally reported as mechanical, but recent data suggest that adipokines may influence central ventilation. We highlight that treatment with recombinant human leptin (RHL) in CLD with OSAHS improves ventilation before weight loss.Case prese...

Background: The commonest cause of 46, XX disorders of sex development (DSD) is congenital adrenal hyperplasia (CAH). We report two female virilised siblings with uncontrolled CAH who were reared as boys since birth. Different team members were involved in management. We discuss here gender reassignment and the psychosocial implications from Islamic perspectives.Case reports: An eight and 11 years old severely virilised CAH Yemeni girls were raised as bo...

Introduction: The relationship between sports intensity and growth has become a concern in teenagers. Changes in the GH/IGF1 axis have been studied as biomarkers for training intensity in adolescents; however, reports on the effects of physical effort on GH and IGF1 levels are discordant and studies on GH and IGF1 responses in combat sports are scarce.Aim: To investigate the effects of a Jiu-Jitsu training session on serum IGF1 and IGFBP3 concentrations....

Introduction: The COVID-19 pandemic led to regional lockdowns and restrictions associated with changes in lifestyle and quality of life (QoL) thus potentially burdening metabolic control in Diabetes Mellitus (DM). We examined whether the stages of restrictions lead to changes in QoL and metabolic control in children with DM.Methods: Starting in April 2020, this monocentric prospective longitudinal cohort study included c...

Background: Data on female fertility, pregnancy, and outcome of offspring after childhood-onset craniopharyngioma (CP) are rare.Study design: Observational study on pregnancy rate and outcome of offspring after CP in postpubertal, female patients recruited in KRANIOPHARYNGEOM 2000/2007 since 2000.Results: 451 CP patients (223 female) have been recruited. 269 CP patients (133 female) were postpubert...

As marijuana use during adolescence has been increasing, the need to understand the effects of its long-term use becomes crucial. Previous research suggested that marijuana consumption during adolescence increases the risk of developing mental illnesses, such as schizophrenia, depression, and anxiety. Ghrelin is a peptide produced primarily in the gut and is important for feeding behavior. Ghrelin and its receptor, the growth hormone secretagogue receptor (GHSR) play important...

Purpose: Childhood-onset craniopharyngiomas (CP) are diagnosed due to clinical symptoms (symCP) or incidentally (incCP). We investigated clinical manifestations and outcome in incCPs and symCPs.Methods: IncCP were discovered in 4 (3m/1f) and symCP in 214 (101m/113f) CP recruited 2007–2014 in KRANIOPHARYNGEOM 2007. Age, sex, height, body mass index (BMI), tumor volume, degree of resection, pre- and postsurgical hypothalamic involveme...

Background: Certain genetic defects in the growth hormone (GH)/insulin-like growth factor 1 (IGF-1) axis are associated with severe primary IGF-1 deficiency (SPIGFD) and short stature. Detection of genetic defects may confirm short stature aetiology alongside clinical/biochemical features. Increlex® is a recombinant human IGF-1 (rhIGF-1) approved for children/adolescents with SPIGFD.Methods: The Increlex<...

Background: Severe obesity and tumor relapse/progression have impact on long-term prognosis in pediatric brain tumor patients.Methods: In a cross-sectional study, we analyzed nuchal skinfold thickness (NST) on magnetic-resonance imaging (MRI) follow-up monitoring as a parameter for assessment of nuchal adipose tissue in 177 brain tumor patients (40 World Health Organization (WHO) grade 1–2 brain tumor; 31 grade 3&#1...

Background: Congenital hypogonadotropic hypogonadism (CHH) is a rare disease with a complex clinical picture and genetic background. In up to 50% genetic mutations are found. The goal is to be able to provide a comprehensive prognosis and genetic counseling for this family with CHH.Case presentation: At the age of 16 years a boy with familial constitutional delay (adrenarche only with 15 years, no growth spurt, bone age 14 years) present...