ESPE Abstracts

Background: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycemia in childhood, and diagnosis and treatment of CHI is one of the most difficult aspects of modern endocrinology and diabetology. In half of infants suffering from congenital hyperinsulinism, which may require resection of pancreatic, potentially curable focal form can be found. Recently introduced diagnostic imaging using 18F-DOPA-PET allows for differentiation as a diffuse and focal...

Introduction: In diabetes type 1 damage of pancreatic beta cells results in insulin deficiency and it can lead to many clinical and biochemical complications, including hypertriglyceridemia. Triglycerides level over 500mg/dl significantly increases the risk of acute pancreatitis which, in combination with ketoacidosis, can worsen the prognosis of patients.A case report: A 9 year old patient was admitted to the Pediatric ...

Introduction: Testicular adrenal rest tumor (TART) is the most important cause of infertility in male with congenital adrenal hyperplasia (CAH). TART is a benign tumor, mainly bilateral (75-80%), usually diagnosed in under-treated CAH male with hypercorticotropinemia, which generally regresses after glucocorticoids therapy adjustment. However, it may determine an irreversible damage by compression and toxic-paracrine effects on the surrounding testicular t...

Introduction: Long-standing primary hypothyroidism is an unusual cause of pituitary hyperplasia (PH) in children, sometimes difficult to distinguish on CT or MRI from primary pituitary tumors. Loss of thyroxine feedback determines overproduction of thyrotropin releasing hormone (TRH) and subsequent TSH-releasing cells hyperplasia in the anterior pituitary. Levothyroxine replacement therapy has been shown to usually determine regression of PH.<p class="abst...

In CAH due to 21-OH deficiency, phenotype-genotype correlation is known. However, the same genetic events may cause different clinical forms of the disease. A case of CAH associated with the P30L in the CYP21A2 gene in presented. The Caucasian girl was born normally and growing healthy till the age of 3.y., when her mother noticed pubic hair growth; at the age of 4 she had acne and an increasing sweating. At 6 y. of age, she was brought to paediatric endocrinologist f...

Introduction: Human ovary is commonly the target of an autoimmune attack in cases of organ- or non-organ-specific autoimmune disorders. Hashimoto’s thyroiditis (HT) is likely to be associated with ovarian dysfunction and diminished ovarian reserve. The classical hormonal test assessing ovarian reserve as early follicular phase serum levels of FSH, inhibin B and estradiol (E2), which are interdependent, and the calculation of the number of antral follicles by transvaginal ...

Background: Moderately elevated thyroid-stimulating hormone (TSH) with normal serum concentrations of free thyroxine (fT4), suggesting subclinical hypothyroidism, is the most common hormonal abnormality in obese children. Controversy remains whether thyroid dysfunction related to obesity has an influence on the cardiovascular risk factors.Objective and hypotheses: The aim of the study was to assess correlation between TSH and fT4 and chosen atherogenic r...

Background: Non-alcoholic fatty liver disease (NAFLD) in obese children is a diagnostic challenge. Presently recommended markers of liver steatosis and risk of progression to fibrosis are: ultrasound imaging (US) and liver aminotransferases (ALT and AST). Owing to the poor sensitivity of these tests, there is a need to search for biomarkers which could indicate early stages of NAFLD. The enhanced liver fibrosis test (ELF) based on the combination of serum concentration of hyal...

Background: The contribution of mutations in paired box domain (PAX8) gene in children with congenital hypothyroidism (CH) and thyroid dysgenesis (TD) still remains a subject of interest of researchers. While quantitative PCR and direct sequencing concentrate on single gene fragment analysis and identification of point mutations, multiplex ligation-dependent probe amplification (MLPA) analysis might improve the detection rate of PAX8 mutations in patients wit...

Background: An abnormal blood pressure (BP) circadian rhythm, and in particular a non- dipping phenomenon is associated with increased cardiovascular and cerebrovascular health risks. In patients on steroid replacement therapy non physiological substitution may affect the BP profile.Objective and hypotheses: i) to evaluate the circadian BP profiles of patients with congenital adrenal hyperplasia (CAH) on steroid replacement therapy, ii) to compare BP pro...