ESPE Abstracts

Background: Mixed gonadal dysgenesis (MGD) is a disorder of sex development associated with a numerical sex chromosome abnormality. Reported genital phenotypes range from female external genitalia or mild clitoromegaly through all stages of ambiguous genitalia to hypospadias or a normal penis, depending on the proportion of monosomic cells.Case presentation: 18 years old girl, with a history of hypertension, ventricular septal defect and obesity presente...

Background: In Autoimmune Thyroid Disease (AITD) two types of TSH receptor antibodies (TSHR-Ab) may be distinguished: thyroid- stimulating immunoglobulin (TSI) that promotes the production of thyroid hormones and thyroid- blocking immunoglobulin (TBI) inhibiting the activity of TSH what leads contrarily to hypothyroidism.Objective and hypotheses: The aim of this study was to compare mean TSI and TBI levels in large paediatric cohort with AITD and control...

Background: The Easypod Connect Observational Study (ECOS) observational study follows children with GHD, SGA and Turner syndrome receiving r-hGH therapy for up to 5 years, with interim analyses each year. The easypod electromechanical auto-injector device enables accurate, real-world digital records of patients’ adherence to rhGH to be collected for evaluation.Objective and hypotheses: The primary objective of ECOS is to evaluate the level of adher...

Background: Maturity onset Diabetes of the young (MODY) is a rare form of diabetes with specific features that distinguish it from diabetes mellitus type 1 (DM1) or type 2 (Dm2). Research studies suggest that 5% of subjects diagnosed with diabetes before the age of 45 years have MODY, with 80% of them having been incorrectly diagnosed as having DM1 or Dm2. Genetic testing my enable correct diagnosis and treatment, optimize glycemic contro...

Introduction: HNF1B gene (OMIM*189907) encodes the transcription factor HNF1B, which is expressed early in embryogenesis, controls gene expression and is involved in multiple tissue and organ development. Mutations of HNF1B account for a complex disorder with multisystemic manifestations (Renal Cysts and Diabetes syndrome, OMIM #137920). Congenital urinary tract abnormalities and HNF1B MODY, a rare cause of diabetes mellitus (DM) (≤5% of M...

Background/Purpose: Case report of two siblings (nine-year-old boy and four-year-old girl) with rarely described factitious diabetes by proxy, aim ing to enhance physician’s awareness.Methods: Initially the boy was referred by a physician to the outpatient clinic to apply (successfully) for an insulin pump. The mother convincingly claim ed her son has had T1DM for 3 years. Reported history started during hospitaliz...

Introduction: Published studies on pubertal growth of SGA patients on GH therapy are scarce. An earlier and shorter duration of puberty has been described. Treatment optimization may be necessary and also know their influence on adult height.Objetives: Analyse the evolution of height durig puberty in SGA patients treated with GH. Asses the age of onset of puberty and its relationship to adult and target height.Methods: Retrospectiv...

Background: Presence of current acne is well described in adolescents and adults with altered sex steroid levels, e.g., in polycystic ovarian syndrome, androgen producing tumors and misuse of anabolic androgenic substances. However, less is known about the impact of physiological concentrations of testosterone and dihydrotestosterone (DHT) quantified by gold standard LC-MS/MS methodologies on the development of acne in healthy adolescent boys and girls.<p ...

Background: Fatty liver disease in children and adolescents is the most common cause of chronic liver disease in many countries. Criteria for a diagnosis of pediatric metabolic associated fatty liver disease (MAFLD) are based on hepatic steatosis in ultrasound, blood biomarkers or liver biopsy in association with one of the three criteria: excess adiposity (overweight, obesity or abdominal obesity), prediabetes or type 2 diabetes, or evidence of metabolic dysr...

Introduction: Insulin (INS) gene is reported to be the most important gene involved in Type 1 Diabetes (T1D); its expression is inversely correlated with methylation at CpG sites. Hypermethylated primers are associated with decreased expression.Aim: The present study aims to investigate possible differences in DNA methylation pattern between T1D youngsters and healthy controls.Patients and Methods: Twenty T1D parti...