ESPE Abstracts

Background: X-linked AHC is a rare disorder of the adrenal cortex caused by mutations in the NR0B1 (DAX1) gene. NR0B1 (DAX1) encodes for an orphan nuclear hormone receptor which is expressed in the adrenal, gonad, hypothalamus, and pituitary glands. Hypogonadotropic hypogonadism (HH) is the most frequently observed puberty disorder (absent or delayed puberty) caused by mutations in the NR0B1 (DAX1) gene and is due to impaired gonadotropin synthesis a...

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by excessive renal phosphate wasting. The dominant form of HR is X-linked HR (XLHR) caused by mutation in the phosphate-regulating endopeptidase gene PHEX. There is also autosomal dominant form of HR caused by mutation in FGF23 gene or rare autosomal recessive form caused by DMP1 mutation. The phenotype can vary from very delicate to severe bone disease.<p class="abstex...

Background: One of the crucial aspects of the management of disorders of sex development is the assessment of the risk of malignant transformation of a dysgenetic gonad.Objective and hypotheses: The PCR analysis of germ-cell risk factors as the presence of the TSPY gene may be helpful in decision making of an early gonadectomy.Results: We report a 46,Xdel(Y)p11.3 girl with gonadal dysgenesis, that was referred to the Depar...

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, the interferon induced helicase domain 1 (IFIH1) gene, the TSH receptor (TSH-R) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association...

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...