ESPE Abstracts

Introduction: Silver-Russell syndrome (SRS) is a rare, clinically and genetically heterogenous condition, and affects one in 100,000 born children. The most well-known genetic mutations in this syndrome are: 11p15 mutation (20–60% patients), and maternal uniparental chromosome 7 disomy (7%–15%). Children with SRS have severely impaired physical growth - intrauterine and after birth. They can be treated with growth hormone (GH).Case report: 8 ye...

Background: The rise of TG in patients with ketoacidosis is connected with the impairment of lipoprotein lipase activity – the enzyme strictly dependent on insulin.Objective and hypotheses: The authors present a case report of 2.5 years old boy in whom diabetes manifestation was connected with severe metabolic disorders: ketoacidosis and extreme hyperlipidaemia.Method: The child without any significant medical history, admitte...

Background: Short stature, increased adiposity and insulin resistance are conditions frequently observed in patients with Turner syndrome (TS). Many hormones are involved in the pathogenesis of the condition but therapeutic options we can offer to the patients are still scant. Each newly discovered peptide give us hope. Klotho play a very important role in the regulation of the human body metabolism and was not investigated in patients with TS so far.<p cl...

Introduction: Klotho is a protein which may serve as a regulator of GH secretion. Growth hormone deficiency is diagnosed in children with growth restriction when GH secretion in two GH stimulation tests do not exceed the level of 10 ng/ml.Aim: The objective of the study was to investigate Klotho and FGF23 in children with growth hormone deficiency (GHD) and their responce to the treatment with recombinant human growth hormone (rHGH).<p class="abstext...

Background: Isolated premature thelarche (IPT) is characterised by precocious breast development without any other signs of puberty.Objective and hypotheses: The aim of the study was to analyze hormonal activity of the pituitary – ovarian axis in girls with IPT.Method: 102 girls with IPT (Tanner stage 2–3), mean age 2±1.4 years (0.04–7 years), mean weight 12.3±4.3 kg, mean height 85.0±13.6 cm (45±...

Introduction: Short stature is the most common symptom of Turner Syndrome (TS). The height below the 3rd percentile is an indication for recombinant human growth hormone (rhGH) treatment. TS is also associated with gonadal failure and increased risk of fracture. Spinal trabecular bone score (TBS) is a novel bone imaging tool that can offer better bone evaluation in TS.Aim: To evaluate TBS in TS, its association with rhGH...

Background: Central precocious puberty (CPP) results from activation of the hypothalamic-pituitary-gonadal axis before the age of 8 years in girls and 9 years in boys. The molecular basis of the maturation of this axis is still poorly understood. The MRKN3 gene located in the Prader-Willi syndrome critical region (chromosome 15q11–q13), inhibit factors stimulating pulsative. GnRH secretion. In 2013 inactivating mutations in the MRKN3 gene were discovered...

Malnutrition, including that caused by malabsorption, is the most common cause of growth failure in children. On the other hand, in children who receive total parenteral nutrition due to extremely severe forms of malabsorption disorders, which involves almost continuous intravenous infusion of nutrients (including glucose), a persistent, functional reduction in growth hormone secretion occurs. A female patient with extreme short bowel syndrome, fed almost entirely parenterally...

Actuality: Standard methods for determining the compensation of the disease don't always reliably reflect the level of the glycemic control of the patient, which leads to decompensation diabetes and reduce the quality and duration of life for patients. Evaluation of glycemic variability indices allows the physicians to predict the risk of developing life-threatening conditions and compensate the diabetesAim: To condu...

Introduction: Micromastia or breast hypoplasia is a condition which is described as postpubertal underdevelopment of a woman’s mammary tissue. Breast hypoplasia may be congenital or acquired. The defect can be isolated or associated with other pathology, including syndromes and chest wall anomalies, it can also be unilateral or bilateral. Unilateral congenital breast hypoplasia is a rare anomaly of breast development, whose incidence is unclear.Meth...