ESPE Abstracts

Background: NordiNet® IOS (NCT00960128), a non-interventional study, collects long-term effectiveness and safety data of GH (Norditropin®, Novo Nordisk) treatment in everyday clinical practice.Objective and hypotheses: Identify paediatric patients more likely to experience a second adverse event (AE).Method: Based on diagnosis at GH treatment start and associated risk for mortality, patients were cla...

Term male baby delivered by elctive c- section.On examination found to IUGR, hypotonic and microphallus less then 2 cms (stretched).Both testis were palpable. No other dysmorphic features noticed. Cranial ultrasound showed sub-ependymal cysts in the frontal region. Parents were concerned regarding his small penis. He was referred to physiotherapy for his low tone and had genetic and metabolic work up done for his persistent low tone. The testosterone levels were found to be lo...

Introduction: Type 1 diabetes mellitus (DM) can be related with other autoimmune disorders. Thyroid dysfunction and autoimmune thyroiditis are frequently reported in DM. This study was performed to evaluate the prevalence and risk factors of thyroid dysfunction and autoimmune thyroiditis in children with new-onset DM.Subjects and Methods: Children with DM and followed for more than 6 months in a single tertiary center were included in the study. Medical ...

Background: The timing of puberty is influenced by different factors, one of which is body composition. The aim of the current study was to investigate if anthropometric indicators of body composition, body mass index(BMI), waist circumference(WC), subscapular skinfold(SSF) and body fat percentage(BF%) were differentially associated with occurrence of breast development, pubic hair and menarche in Norwegian girls.Methods:</strong...

Background: Steroidogenic factor (SF1, NR5A2) regulates multiple genes known to be involved in gonadal development, adrenal development, steroidogenesis, and gonadotroph development. Heterozygous mutations in the NR5A1 gene have been described in association with mild to severe gonadal dysgenesis with or without adrenal failure. Homozygous mutations are rare and have also been described in association with gonadal dysgenesis with or without adrenal failure.<p class="abstex...

Background: ROHHADNET syndrome is characterised by rapid onset childhood obesity, hypoventilation, variable hypothalamic-pituitary and autonomic dysfunction, and neuroendocrine tumors in 30–40%. Autoimmunity and paraneoplastic syndrome have been proposed as possible pathophysiological mechanisms, but the exact aetiology remains unclear.Objective and hypotheses: We present the clinical course of ROHHADNET syndrome in a 17-year-old girl, with consecut...

Familial hypobetalipoproteinemia (FHBL) is an autosomal codominantly inherited disorder of lipid metabolism characterized by <5th percentile plasma levels of LDL cholesterol or total apolipoprotein B (apoB). LDL cholesterol level is usually between 20-50 mg/dL. FHBL results from mutations in APOB, PCSK9 gene. Patients with homozygous APOB-related familial hypobetalipoproteinemia (APOB-FHBL) may have symptoms of fat malabsorption, steatorrhea, diarrhea, failure to thrive, de...

Background: In children undergoing investigation of testicular function the relationship between serum anti-Mullerian hormone (AMH) and the testosterone response to hCG stimulation test (HST) is unclear.Method: 75 children (3F, 72M) with a median age of 1.08 years (range, 0.003, 14.3) were investigated for suspected DSD by AMH on D1 and testosterone on D1 and D4, before and after 3-day HST. Of these children, 27 had an additional prolonged HST. Normal te...

Objective: Analyze CCH detection program results from 3 Autonomous Communities: TSH and total T4 (TT4) in dried blood spot (DBS) at initial screening (48 hours of life) and at retesting. Describe the characteristics of neonates with screening compatible with CCH. Consider whether TBG deficiency (TBGD) is an added difficulty in said study.Materials and Methods: Retrospective study (May 2016-May 2020) of all neonates ≥33 weeks and/or ≥1500 gr...

Introduction:Blood transfusion and iron chelation are conventional treatments for β-thalassemia (BTM). Malnutrition negatively affects their growth, efficacy of treatments, and quality of life.Objective: To evaluate the nutritional status and linear growth in 10 countries in the past 20 years.Methods: We performed an electronic search in PubMed, Google Scholar, and Web of Scie...