ESPE Abstracts

Background: Congenital Hyperinsulinism(CHI) is characterized by the unregulated secretion of insulin in the presence of hypoglycaemia. The mutations in ABCC8 and KCNJ11, which encode the sulfonylurea receptor 1 (SUR1) and potassium inward-rectifying 6.2 (Kir6.2) subunits of ATP-sensitive potassium channel (K channel), are the most common identified cause of the condition. Defects in the HADH gene are responsible for SCHAD- HI, a rare form of the disease caused by the disruptio...

Introduction: A rare cause of diabetes mellitus is Wolfram Syndrome, which arises from mutations in wolframin gene found on chromosome 4. Optic nerve atrophy, diabetes insipidus, sensorineural deafness, psychiatric problems can accompany diabetes mellitus, so it can be also named as DIDMOAD syndrome. Hypergonadotrophic hypogonadism can be rarely observed in Wolfram syndrome. A case of novel homozygous mutation in the wolframin gene has been reported because of concomitant rare...

Background: Neonatal hypocalcemia is defined when the total calcium levels are under 8 mg/dl (Ionic Ca < 1.1 mmol/l) in the full-term newborn, and under 7 mg/dl (Ionic Ca < 1 mmol/l) in the preterm. The fetus entirely depends on the maternal contributions of 25-OH-vitamin D, whose levels are directly correlated with diet and solar exposure. The largest transfer in calcium and vitamin D occurs in the third trimester of gestation, so prematurity is an important risk fact...

Background: TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a newly reported inborn error of metabolism caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs). TRNT1 mutations cause a complex multisystem disease leading to manifestations in most organs. We here described the effect of growth hormone (GH) treatment on short stature in two siblings with TRNT1 deficiency.Case p...

Background: Prader-Willi Syndrome (PWS), due to loss of paternal gene expression on chromosome 15q11.2-13, is characterized by hypotonia, hypothalamic-pituitary dysregulation, abnormal respiratory drive, and hyperphagia. GH, often started in infancy, improves tone, body composition, and height. Concerns about sudden death in children with PWS started on GH, hypothesized secondary to worsening obstructive sleep apnea (OSA) from adenotonsillar hypertrophy, resulted in guidelines...

Introduction: GnRH test is standard in confirming the diagnosis of central precocious puberty (CPP). However, GnRH (Relefact) is not always readily available in Serbia and several other countries. Two studies so far have assessed use of triptorelin in diagnosing CPP, with different sampling protocols, and in only one of these studies were triptorelin test findings compared to GnRH test findings.Objective: To evaluate the diagnostic accuracy of triptoreli...

Introduction: In human, the development of the embryonic gonads represents a complex process involving a large number of genes, some still unknown. Specific pathways have a crucial role for the normal ovarian development, the germ cell genomic stability and hormonal maintenance. These pathways’ dysregulation can lead to POF, clinically manifesting as the absence of pubertal onset and/or amenorrhea.Objective: To identify candidate genes responsible f...

Background: Hypothyroidism is a common problem during childhood generally due to autoimmune thyroid disease. It can also occur in case of severe loss of serum proteins, as well as in the case presented. The most accepted practice in the treatment of hypothyroidism consists in the oral administration of LT4. Many conditions may affect the absorption of LT4.Case presentation: We report an original case of LT4 malabsorption ...

Introduction: Congenital adrenal hyperplasia due to 11 beta hydroxylase deficiency, is an autosomal recessive pathology that represents 5 to 8% of congenital adrenal hyperplasia. The predominant symptoms of this disorder are androgen excess’ features, including masculinization of female newborns and precocious puberty in male children. Approximately, two thirds of patients also have hypertension, which may or may not be associated with mineralocorticoid excess, hypokale...

The current lifestyle, with a diet increasingly removed from the Mediterranean diet, together with the habitual sedentary lifestyle, is associated with many of the so-called non-communicable diseases, such as the metabolic syndrome. Every day these pathologies are more frequent in pediatrics, so this study has tried to establish the prevalence of metabolic syndrome and its components in overweight and obese children and assess its impact. METHODS A descriptive study has been c...