ESPE Abstracts

Background: The sonic hedgehog pathway (SHH) regulates CNS development and mutations or abnormal expression of the SHH pathway genes have been identified in epithelial tumors. SHH pathway interacts with Wnt/β-catenin signalling. To date, CTNNB1/β-catenin mutations are the sole molecular abnormality found in adamantinomatous craniopharyngiomas (ACPs).Objective and Hypotheses: To analyze the expression pattern of SHH pathway genes in ACPs and its...

Background: overexpression of the oncogene Yes-associated protein 1 (YAP1), a Hippo pathway target, associates with increased cell proliferation in some human cancers. There is not data on adrenocortical tumors (ACT). YAP1 is a potential target of Wnt/β-catenin pathway, which plays an important role in ACTs.Objective and hypotheses: to evaluate the role of YAP1 and its interaction with the Wnt/β-catenin pathway in ACT.Met...

Aim: To uncover a feasible tumor expression prognostic signature and potential therapeutic targets for children with pACT.Methods: Tumor RNAseq from 53 pACT children (70% girls, median age: 1.7yrs) was performed (Illumina). Using a robust, state-of-the-art, differential gene expression analysis pipeline, differentially expressed genes (DEGs: adjusted P<0.05 and |log2 fold-change|>1) were identified (DESeq2...

Objectives: - To establish the main factors on which a good response to GH treatment depends. - To study the optimum adherence values. - To study the impact of the loss of adherence in the treatment with GH.Materials and Methods: This is a non-interventional, retrospective observational study, by reviewing medical records of patients undergoing GH treatment for at least 2years due to GHD or SGA. Patients received treatment with Saizen&#1...

Objectives: Anti-Müllerian hormone (AMH) is produced by Sertoli cells in the testicles and granulosa cells in the ovaries. Increased abdominal adipose tissue initiates metabolic and endocrine disorders and predisposes to polycystic ovary syndrome. AMH is used as a marker in PCOS. A decrease in AMH levels has been reported in adults with obesity and increased central adiposity. The purpose of this study was to assess the serum AMH level and related factors...

Background/aims: The high complexity of Pediatric reference ranges across age, sex and units impairs clinical application and comparability of steroid hormone data, e.g., in CAHs. We developed a Multiples-of-Median (MoM) normalization tool to overcome this major drawback in Pediatric Endocrinology.Methods: LC–MS/MS data comprising 10 steroid hormones representing 905 controls (555 males, 350 females, 0 to >16 years) from two previous datasets we...

Introduction: Gonadectomy may be indicated in people with differences or disorders of sex development (DSD). Based on historical data from the International-DSD (I-DSD) Registry that showed considerable practice variation, this I-DSD care quality improvement project seeks to determine, through prospective surveillance, the frequency of gonadectomy in individuals with DSD internationally.Methods: All existing I-DSD centre...

Background: Body image (BI) is subjective picture of one’s own physical appearance established both by self-observation and by noting the reactions of others. Different BI scales used for screening of the Binge Eating symptoms that strongly linked to obesity.Objective and hypotheses: We supposed to get differences in the own body image perception in overweight and lean children.Method: BI questionnaire (BIQ) and own body satis...

Introduction: Lack of impulse control and impaired stress regulation may explain the development of obesity and its challenging therapy, already in youth. To improve self-regulation of overweight adolescents and subsequently their weight status, we tested, whether a biofeedback relaxation exercise decreases stress and whether relaxation services implemented in a novel Smartphone App supported intervention have effects on stress and weight outcomes.Method...

Purpose: Therapeutic goals in the adolescent male with hypogonadotropic hypogonadism(HH) are virilization, optimal adult height, normal bone mass, body composition, psychosocial development, and fertility. Until recently, only testosterone was used to treat adolescent males with HH. However, this treatment did not cover all treatment goals and adverse effects on fertility were reported. Therefore, gonadotropin therapy can be used in addition to testosterone in...