ESPE Abstracts

Purpose: Transgender adolescents are treated with gonadotropin-releasing hormone analogues (GnRHa), followed by the addition of gender-affirming hormones. Since during puberty the body reaches maturation, concerns have been risen that the treatment may have negative outcome later in life. The aim of this study is to determine whether treatment with GnRHa and subsequent addition of hormones results in a more atherogenic profile than peers at the age of 22.<p class="abstext"...

Background: Functional studies on uncoupling protein 1 (UCP1) are important to identify potential pharmacological targets which interfere with energy metabolism. However, current cell models of human origin are scarce due to limited tissue availability. In this study, we generated human preadipocytes and adipocytes with an overexpression of UCP1 and studied the metabolic function of these cells.Methods: Human Simpson-Golabi-Behmel syndrome (SGBS) cells w...

Background: GNAS gene is a complex imprinted locus, resulting in the expression of at least four transcripts (XL, NESP55, A/B and Gsα) characterized by their specific exon 1 and common exons 2-13. While Gαs is biallelically expressed in most tissues, XL is only expressed from the paternal allele. Maternally inherited, loss-of-function mutations affecting those GNAS exons that ...

Background: DAX-1 (NR0B1) plays a key role in adrenal and reproductive development. It interacts with other nuclear receptors; however, its exact biological role remains unclear. In men most patients with X-linked adrenal hypoplasia congenita (AHC) present with acute adrenal failure. To date DAX-1 mutations have been found in more than 100 families or patients with X-linked AHC.Results: We report the case of a 2.5-year-old boy who presented with a histor...

Background: Various endocrine complications are common after HSCT but primary adrenal insufficiency (Addison’s disease, AD) is absolutely rare. To the best of our knowledge, there is only one case of AD reported in a 9-year-old girl after HSCT and busulfan and cyclophosaphamide-based conditioning for myelodysplastic syndrome.Objective: We report on a 14-year-old boy from Albania who developed an Addisonian crisis 12.7 years after HSCT.<p class="...

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: GH response is influenced by genetic polymorphisms, including the rs1024531 polymorphism (A/G) in the promoter region of GRB10, a negative regulator of signaling through the IGF1 receptor. Allele A is associated with borderline lower baseline IGF1 SDS and 1.5-fold higher response to GH compared to allele G in children with GHD (P=0.0006).Objective: To test functional impact of the rs1024531 polymorphism in an in vitro</e...

Introduction: Recently, the impact of glycemic variability in the development of chronic complications of diabetes has been put in question. The gold-standard method to quantify glycemic variability is not well established.Objective: To analyze the relationship between HbA1c and glycemic variability as determined from self-monitoring blood glucose (SMBG) in type 1 diabetes (T1D) pediatric population.Patients/methods: Cross-sectiona...

Background: Obesity is a potential late-effect of therapies for childhood cancer. Reported prevalence rates of obesity in childhood cancer survivors are heterogenous and currently unavailable for children treated according to protocols of the German Society for Paediatric Oncology. Furthermore, risk factors for the development of obesity following childhood cancer remain largely unknown.Methods: From a cohort of n=149 patients followed in a late...

Background: 80–95% of congenital adrenal hyperplasia (CAH) cases are due to mutations in the CYP21A2 gene encoding 21 hydroxylase. The residual activity of the gene defines the clinical form. Routine mutational screening of CYP21A2 defects is shown to effectively support the complex diagnostic and treatment procedure of newborns with CAH.Objective: We aimed to characterise the phenotype of a girl with compound heterozygosity of ...