ESPE Abstracts

Background: Combinations of follicle-stimulating hormone (FSH) and human chorionic gonadotropin (hCG) have been successful in treating males with hypogonadotropic hypogonadism (HH). The aim of this study was to investigate the efficacy and safety of corifollitropin alfa (CFA), a long-acting FSH analog, combined with hCG to induce testicular growth and pubertal development in adolescent males with HH.Methods: This was a 6...

Introduction: Generally, patients with X-linked hypophosphatemic rickets (XLH) experience normal puberty. However, they can be affected by metabolic and environmental factors that may predispose them to central precocious puberty (CPP) and impair their predicted final height, similar to the general population.Case Report: A female patient was diagnosed with XLH at three and received regular treatment with calcitriol and ...

Pediatric obesity remains an ongoing serious international health concern affecting about 17% of children and adolescents in the United States while worldwide over 41 million children under 5 years are overweight or obese, threatening their adult health and longevity. Pediatric obesity has its basis in genetic susceptibilities influenced by a permissive environment starting in utero and extending through childhood and adolescence. Endocrine etiologies for obesity are rare and ...

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In this case-control study 19 Greek adolescents with Polycystic Ovary Syndrome (PCOS) and 21 non-PCOS controls were assessed for their hormonal, somatometric and autonomic nervous system profile in supine position. The study adhered to the Helsinki Guidelines of Good Clinical Practice. Significant differences were found only in very low frequencies (VLF) (P = 0.008) and Power spectral density RR (PSD) (P < 0.001) between adolescents with PCOS and controls...

Introduction: Diabetes type 1 (DM1) in children can result in lipid disorders due to insulin deficiency. Familial hypercholesterolaemia (FH) is a very common monogenic disorder with occurrence of 1:250 and it may lead to development of cardiovascular disease (CAD) in a very young age.Case report: Female patient with diabetes diagnosed at the age of 5, was referred to joint diabetes and lipid clinic due to high levels of ...

6q24 methylation defects are the most common cause of Transient Neonatal Diabetes Mellitus (TNDM). The clinical picture is one of impaired insulin secretion, small for gestational age and diabetes mellitus aged <6 months. This case illustrates the fluctuation between both hyper- and hypoglycaemia that can been seen in 6q24 methylation defects. A term, small for gestational age baby boy was noted to have hypoglycaemia (BSL 1.8 mmol/l) at 1.5 h of life which resolved with or...

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 ...

The third child to Burmese parents is born at term in good condition in a suburban hospital. The baby was breast fed from birth and had a normal physical examination without dysmorphic features or palpable liver edge. The parents have had two previous live male births at term, that developed severe jaundice and seizure in the first 24 hours of life; both passed away on day 3 of life. Due to concerns of possible metabolic condition, the baby was commenced on prophylactic photot...

Background: Imprinting disease such as Prader-Willi syndrome (PWS) are associated with pathological sleep due to central and obstructive apneas. No data are available concerning Silver Russell syndrome (SRS) but most patients describe day asthenia and snoring. These patients also often present with maxillo-facial malformations.Aims and objectives: We wanted to characterise sleep in SRS and evaluate GH therapy possible effect on it....