ESPE Abstracts

Introduction: Sulfation is required for the metabolism of numerous compounds, including proteoglycans, steroid hormones, neurotransmitters, toxic chemicals, and drugs like acetaminophen. The sulfate transporter SLC13A1 is responsible for the intestinal absorption and the renal reabsorption of inorganic sulfate, but loss-of-function mutations in this gene have never been described in man. Here, we describe a male with a biallelic loss-of-function variant, i.e.,...

Objectives: We aimed to develop a non-invasive model for the detection of metabolic syndrome (MetS) in school children and adolescents.Methods: Participants were 7,330 children and adolescents aged 10–18 years attending schools in eight Chinese cities. Participants had anthropometry measured by research nurses and underwent fasting blood tests. MetS was defined as central obesity (waist-to-height ratio ≥0.46 f...

Background: X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency (PAI) and hypogonadotropic hypogonadism (HH), with limited clinical and genetic characterization.Methods: The clinical, biochemical, genetic, therapeutic, and follow-up data of 42 patients diagnosed with X-linked AHC were retrospectively analysed.Results: Hyperp...

Background: Radioactive iodine (RAI) therapy has become the preferred treatment for Graves’ disease in children. Its use has found favour due to the risk of adverse effects in medical management and the invasiveness of thyroidectomy. Side effects of RAI in adults are well-documented and include dry mouth, sore throat, and neck pain. With its relatively recent application to paediatric patients, there is not a complete understanding of adverse effects in the paediatric pop...

Background: Neuroendocrine tumors (NETs) represent a complex entity of neoplasm arising from different cell types of neural crest origin. They can produce and/or secrete various hormones or vasoactive substances. Usually sporadic, they can occur in association with other cancers, as part of a multiple endocrine neoplasia type 1 (MEN1), von Hippel–Lindau disease, von Recklinghausen, tuberous sclerosis.Case report: We report a case of neuroendocrine t...

Objective and hypotheses: To establish clinical, laboratory peculiarities of manifestation, short-term effects of performance of hormonotherapy children with CACH.Method: We examined 32 children with CACH (29 children – with salt-losing form (SLF) (boys/girls=18/11), 3 – virile form (VF) (boy/girls=1/2)) in onset and after 1 year of therapy. Weight and growth dynamics, parameters of potassium (K), sodium (Na), glucose, adrenocorticotropic hormo...

Background: Non-communicable disease epidemic is directly related to the dislipidemia and insulin resistance (IR) that associated with acute cardiovascular events. Meanwhile, there is not much has known about interrelation between this parameters in pediatric patients.Purpose: of the study is to analyze associations between lipids and insulin resistance so as to screen high risk subjects during adolescence.<p class="...

Background: Suppression of hypothalamic-pituitary-gonadal system activity by luliberin analogues in premature sexual development of the central genesis is accompanied by a decrease in growth’s velocity, sexual development and progression of bone age.Aim: Study of the effectiveness of gonadotropin-releasing hormone agonist therapy, their influence on the physical developmentMethods: 66 patients were treated by triptorelin. Idio...

Background: Insulin pumps are widely used in the treatment of type 1 diabetes mellitus (T1D) in children because of numbers of advantages in compare with multiple daily insulin injections (MDI). However, the long-term efficacy of continuous subcutaneous insulin infusion therapy (CSII) in achieving and maintaining of diabet stability is still not resolved.Purpose: Determine the feffectiveness-related factors of glycemic c...

Background: Growth hormone (GH) deficiency in children, confirmed by stimulation diagnostic tests, in some cases is accompanied by low effectiveness of somatropin replacement therapy, which may be associated with rare genetic syndromes.Aim: To study the growth effects of GH therapy in treating a patient with Floating-Harbor SyndromeMethods: A GH deficiency was diagnosed in a patien...