ESPE Abstracts

Introduction: Since the 1980s, long-acting gonadotropin-releasing hormone analogues (GnRHa) have been the standard treatment for central precocious puberty (CPP).Aims: To evaluate the short-term response (at 6 and 12 months) of treatment with GnRHa in female children diagnosed with CPP, regarding growth, bone maturation (Greulich and Pyle method), predicted adult height (PAH) and pubertal development (Tanner stages)....

Introduction: Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by the presence of pancreatic-autoantibodies, which are diagnostic biomarkers. The detection of autoantibodies in first-degree relatives of patients with T1D is considered a risk factor for developing the disease; however, there is little information on how long it takes from the detection of autoimmunity to the clinical onset of T1D.Objectives:</st...

Background and aims: The introduction of next-generation sequencing (NGS) as an essential tool for the routine molecular diagnosis of DM has highlighted the under-diagnosis of monogenic diabetes mellitus (MonDM). Accurate molecular diagnosis of the MonDM subtype has important implications for prognosis and choice of treatment, family counseling and health management, enabling precision medicine. The main objective was to clinically and molecularly characterize...

Background: Digital health is becoming increasingly important worldwide. However, there is a lack of research on barriers to the implementation of digital health solutions for growth disorders in the Gulf Region. Participatory research can help to understand barriers faced by different stakeholders, design effective solutions and evaluate their implementation, whilst taking cultural aspects into consideration. Involving clinicians in understanding barriers to ...

Background: Mesoderm-specific transcript (MEST) is an epoxide α/β-hydrolase protein with catalytic activity that is determinant for the development of adipocytes. The MEST gene is an imprinted gene transcribed only from the paternal allele. Although the mechanism by which MEST overexpression augments fat accumulation and storage in adipocytes has not been fully elucidated, frequent subcellular contacts between MEST-positive endoplasmic reticulum, mi...

Introduction: Growth prediction algorithms (i.e. iGRO), provide an estimate of a patients’ likely growth in the first year, and subsequent years, of GH treatment at a given dose, taking into account the patient’s combination of physical characteristics. Comparing a patient’s actual growth with their predicted growth after the first year of GH treatment, it is possible to determine whether the patient is responding to GH as expected (Index of responsiveness; IoR)...

Introduction: Steroidogenic factor-1 (SF1), encoded by the NR5A1 gene, regulates several genes involved in male sexual determination, such as SOX9 and AMH, cholesterol mobilization and synthesis of a number of steroidogenic enzymes, like 3βHSD, and androgen biosynthesis, like INSL3. Mutations in NR5A1 have been associated to a broad phenotypic spectrum in 46, XY subjects, including pure gonadal dysgenesis, infertility, anorchia...

Background: Most reports on gonadotoxicity associated with chemotherapy of acute lymphoblastic leukemia (ALL) comes from studies in adults, and they are mainly focused on the sensitivity of testicular germ cells. Little attention has been placed on Sertoli cells in prepubertal patients, even though Sertoli cell function is essential for adult spermatogenesis.Objective: To evaluate Sertoli cell function in prepubertal boys who receive chemotherapy for ALL...

Background: Childhood obesity is often associated with insulin resistance (IR), which is a key risk factor for the development of comorbidities. The etiologic relation between insulin resistance and obesity is still not completely understood.Objective: In this study a multiplatform metabolomics approach was applied for the first time to elucidate the metabolic alterations in obese children with or without IR. Metabolomics is the revolutionary strategy of...

Background: Kallmann syndrome (KS) is a rare clinical entity, characterized by the association of hipogonadotropic hypogonadism and hypo/anosmia, with an estimated prevalence of 1:8000 in males and 1:40 000 in females.Method: Retrospective study of cases of KS diagnosed in paediatric age. Genetic analysis was performed by PCR and DNA sequencing of KAL1, FGFR1, GNRHR, GNRH1, PROK2, PROKR2, KISS1R, TAC3, TACR3, and FGF8 genes.Results...