ESPE Abstracts

Background: Carbonic anhydrase II (CAII) deficiency is extremely rare (<1:1 000 000) autosomal recessive disease, which is characterized by the triad of osteopetrosis, basal ganglia calcifications and renal tubular acidosis. In addition short stature, facial dysmorfism and different degree of mental retardation are possible features. Different mutations of the gene for CAII on 8q21.2 lead to impaired enzyme activity and typical clinical, biochemical and imaging manifestati...

Background: The prevalence of childhood obesity has been rapidly increasing worldwide and the last report of World Health Organisation define it as epidemic and one of the most serious global public health challenges for the 21st century. Obese children and adolescents are at an increased risk of developing various health problems including type 2 diabetes mellitus, hypertension, osteoarthritis, cardiovascular disease. Obesity is a risk factor for vitamin D deficiency. Vitamin...

Background: Congenital adrenal hyperplasia (CAH) may cause early maturation of hypothalamic–pituitary–gonadal axis when the initiation of corticosteroid treatment is late or/and there is poor compliance. The latter sometimes leads to a lack of treatment. In most cases, if the child survives, he or she develops central precocious puberty.Case report: We present a 12-year-old boy born of a normal pregnancy and delivery. In the first months of lif...

Background: APS type 1 is characterized by an autosomal recessive inheritance. The clinical diagnosis is based on the presence of at least two of the three following diagnostic criteria: chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and autoimmune adrenal insufficiency. Patients often develop other autoimmune diseases. APS type 1 is caused by mutations in the AIRE gene which encodes the AIRE protein. The protein probably acts as a transcription factor.<p c...

Background: Obesity in children is already a global health problem. Obese children and adolescents with insulin resistance provide the pediatric healthcare professionals management challenge. Obesity with insulin resistance, dyslipidemia and elevated blood pressure constitute the metabolic syndrome and each of these is an independent risk factor for cardiovascular disease (CVD). Metformin is well-established oral hypoglycaemic agent in the treatment of adult and young patients...

Background: Corticosteroids are medicines that are used to treat many chronic diseases. They are very effective anti-inflammatory drugs by suppressing the immune system, and are also used as a replacement therapy in conditions with low levels of endogenous cortisol. Glucocorticoid effects on bone metabolism include: reduced absorption of calcium in the intestine; increased calcium urinary excretion; increased bone resorption and reduced bone density. Corticosteroid treatment i...

Background and aims: The spread of obesity among children and adolescents is increasing significantly in the last decades. The World Health Organisation defined the disease as a global epidemic and the need of complex interventions worldwide is well recognised. Obesity is major risk factor for many chronic diseases, including diabetes, cardiovascular and lung diseases, orthopaedic and skin problems, and cancer. There are strong predictors that 50% of pre-pubertal and 50–7...

Background: Precocious puberty is defined as the onset of pubertal signs in girls younger than 8 years of age and in boys younger than 9 years of age. Central precocious puberty is due to an early activation of the hypothalamic-pituitary-gonadal axis. Different candidate genes were involved in the etiology of the disease. To date, mutations in the maternally imprinted gene MKRN3 are most frequently found in families with CPP.Objective and hypotheses: The...

Background: Allgrove sydrome (triple A, 4 A syndrome) is a rare autosomal recessive disorder, characterized by the triad of ACTH resistant adrenal insufficiency, alacrima and achalasia. In addition many patients show progressive neurologic impairment such as progressive paripheral polyneuropathy, hyperreflexia, nasal speech and disautonomia. It is now known that mutations of the ADRACALIN (AAAS) gene on the 12q13, that encodes the protein ALADIN, are responsible for the clinic...