ESPE Abstracts

Background: P450 oxidoreductase deficiency (PORD) is characterised by glucocorticoid and sex steroid deficiency and skeletal malformations, resembling Antley–Bixler syndrome (ABS, MIM 124015), a skeletal malformaton phenotype also present in patients with fibroblast growth factor receptor 2 mutations (FGFR2, MIM 176943). While genetic testing confirms both conditions, establishing the exact diagnosis on clinical grounds can be challenging.Objective ...

Backgrounds and objectives: Low bone mass density is an important problem in survivors of childhood cancers. The aim of this study is to determinate the influence of factors on bone mass density (BMD) and the prevalence of abnormal bone turnover.Materials and methods: The evaluation was performed in 67 patients (64.18% boys and 35.82% girls) at least 1 year after therapy of solid tumours, aged 4–27 years (median 12.67). The following parameters were...

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...

Introduction: The IGSF1 gene deficiency syndrome (IDS) is an X-linked disorder involving hormonal disfunctions. We report a case of Central Hypothyroidism (CH) due to a Xq26.1q26.2 microdeletion including the IGSF1 gene.Case: this boy was referred to our clinic for thyroid dysfunction. He was born at term by caesarean section due to maternal uterine myoma. Pregnancy was normal, parents were non consangu...

Background: The success of highly active antiretroviral therapy (HAART) has dramatically increased life expectancy for human immunodeficiency virus (HIV)-positive patients, revealing a range of chronic problems associated with HIV. Among others, low bone mineral density (BMD) has been described in HIV-infected youths. Little is currently known about the changes of BMD over time in these patients.Objective and hypotheses: The aim of the study was to asses...