ESPE Abstracts

Background: We present two brothers with very distinct phenotype, possibly constituting a novel clinical and genetic entity. The common phenotype included red hair, obesity, myopathy, severe IGHD and, growth without growth hormone.Case presentation: At the age of 28 months the older brother had a height of 68 cm (−9 SD), his bone age was 6 months. The younger brother had a height of 62 cm at the age of 20 months (−5 SD), bone age 10 months. T...

Background: We present two brothers with very distinct phenotype, possibly constituting a novel clinical and genetic entity. The common phenotype included red hair, obesity, myopathy, severe IGHD and, growth without growth hormone.Case presentation: At the age of 28 months the older brother had a height of 68 cm (−9 SD), his bone age was 6 months. The younger brother had a height of 62 cm at the age of 20 months (−5 SD), bone age 10 months. T...

Introduction: Childhood overnutrition is a global challenge of public health. Both WHO and different countries have prepared BMI charts for pediatric population. Proper assessment of nutritional status is particularly important in children with type 1 diabetes (DM1). Due to Russian aggression, some Ukrainians with DM1 have to continue treatment in Poland.Aim: to compare HbA1 concentrations and the incidence of overnutrit...

Introduction: The incidence of autoimmune thyroid diseases (ATD) is constantly rising. Graves’ disease (GD) remains the most common cause of thyrotoxicosis in pediatric population, but the exact pathogenesis of GD is still not fully understood. The immunological basis of ATD assumes an imbalance between effector and regulatory T lymphocytes. B regulatory cells (Breg) are able to suppress the pro-inflammatory properties of effector T cells. Methimazole (M...

Background: Fibrous dysplasia (FD) is rare disease that affects skeletal system characterized mostly by abnormal bone formation. The newly formed disorganized mass includes fibrous tissue with poorly organized immature trabeculae. FD is a highly incapacitating condition where fractures, deformities and consecutive functional impairment could occur as mono, olygo or polyostotic form. Aside from predominantly asymmetric skeletal involvement, extra-skeletal manif...

Introduction: In the body of available literature, the information on the relationship between the level of gender dysphoria (GD), social transition and mental health and hormone levels is scant.Methods: The data has been obtained from medical records of 120 transgender and gender non-conforming (TG/GNC) young patients of the pediatric and endocrinological ward of the Upper Silesian Center of Youth’s Health in Kato...

Background: Renal abnormalities are estimated to be present in 30–40% of Turner Syndrome (TS). Monosomic patients have a reported greater risk for renal anomalies.Objective: To assess the frequency of renal malformations in TS according to karyotype; and report related complications at most recent follow up.Methods: The medical records of 182 patients with TS born between 1970 and 2013 were retrospectively reviewed.<p clas...

Background: The prevalence of atypical genitalia and the time taken to assign sex in such cases remains unclear. Provision of optimum healthcare during this period requires a clear understanding of the occurrence of atypical genitalia.Methods: Prospective electronic survey of clinical members of managed clinical networks in Scotland between 2013 and 2018 seeking notification of term neonates requiring specialist input fo...

Introduction: Previous studies showed that non-obese children and adults with Prader-Willi syndrome (PWS) have a low frequency of metabolic syndrome (MetS), while obese ones have a frequency similar to that of non-PWS obese. It is known that individuals born small for gestational age (SGA) have a greater predisposition to the development of MetS. Recent neonatal percentiles of subjects with PWS (Salvatoni et al, Am J Med Genet Part A, 2019) documented...

Background: National and international guidelines recommend thyrotropin (TSH) determination as the most sensitive test for detecting primary congenital hypothyroidism (CH) in newborn screening programs. A strategy of a second screening at 2 weeks of age, or 2 weeks after the first screening was carried out, is also recommended in preterm, LBW and VLBW neonates, twins, neonates admitted in NICU, and babies with specimen collection within the first 24 hours of life [1–3]. H...