ESPE Abstracts

X-linked hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. It is caused by inactivating mutations in the PHEX gene (phosphate-regulating-endopeptidase-analog, X-linked), leading to increased fibroblastic growth (FGF-23) levels, responsible for the renal phosphate wasting. This results in hyperphosphaturia and hypophosphatemia, and altered bone mineralization, in the absence of vitamin D deficiency. Classical treatment consists on oral supplementatio...

Background: Increasing prevalence of obesity requires improvement in current therapeutic approaches. Multidisciplinary lifestyle intervention programs involving both children and their parents are showing promising results.Aim: To compare the efficacy of family-based multidisciplinary program with standard weight loss counseling program in obese children.Methods: The intervention group consisted of 119 obese children with BMI 85 kg...

Introduction: Hyperglycemia is a common event in neonates, frequently associated with specific clinical conditions (sepsis, drugs or intravenous fluids) other than neonatal diabetes. Unusual endocrino-metabolic syndromes must be considered whenever initial studies are inconclusive.Case report: Newborn term female was admitted at the NICU for intrauterine growth restriction with fluxometric changes and low birth weight (1710 g). Gestational history includ...

Introduction: Premature thelarche is considered a benign condition of breast development in prepubertal girls. It usually resolves after a certain period of time.Materials and methods: A 1.5 year old girl was referred to the pediatric Endocrinology department due to breast development which appeared two months prior to the visit.Results: Upon clinical examination the patient had Tanner breast stage M2-3 bilaterally, but otherwise a...

Introduction: Graves’ disease (GD), the main cause of hyperthyroidism in children, is caused by thyrotropin receptor stimulating autoantibodies (TRABs) that activate thyroid hormone synthesis, secretion and thyroid growth. Therapeutic options are anti-thyroid drugs (ATD), 131-I or thyroidectomy. This study reports the experience of a Tertiary Pediatric Endocrinology Unit.Methods: Review of GD patients diagnosed from January/2001 to October/2017. Res...

Background: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder, which remains a clinical diagnosis. The Netchine-Harbison clinical scoring system (NH-CSS), recently adopted by the first international consensus on SRS, defines SRS with at least 4 of the 6 following criteria: born SGA, postnatal growth retardation, relative macrocephaly at birth, prominent forehead, body asymmetry and early feeding difficulties. It is related to 11p15 ICR1 loss ...

Background: The etiology of short stature is heterogeneous, often encompassing complex genetic disorders of difficult diagnosis. Analysis of chromosomic copy number variants (CNVs) has been demonstrating the important role of these genomic imbalances in population diversity and human disease.Objective and hypotheses: To analyze the frequency and describe novel submicroscopic chromosomal CNVs in a group of patients with short stature of unknown cause....

Background: Premature adrenarche (PA) has been considered a benign condition. Recently, associations with increase androgen levels and PCOS have arisen.Objective: To determine whether PA in children at pubertal onset (TII) determines a different timing of pubertal events and a different pattern of ovarian and adrenal hormones.Methods: A total of 583 girls from the longitudinal cohort (Growth and Obesity Cohort Study, born 2002) wer...

Background: Premature adrenarche (PA) has been considered a benign condition. Recently, associations with an increased metabolic risk have arisen. This risk may depend on ethnic background and infancy weight gain, which could be different by gender.Objective and hypotheses: To determine whether PA in children at pubertal onset (TII) determines a higher metabolic profile.Methods: 1190 children (49.9% female) from the longitudinal co...

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare syndrome characterized by unresponsiveness or resistance to the action of aldosterone. It manifests with persistent salt loss, resulting in hyponatremia, hyperkalemia and metabolic acidosis. High levels of aldosterone and renin activity, confirms the diagnosis. When the inheritance pattern is autosomal recessive it expresses as a severe systemic disease. Often occurs in the neonatal period and presents with recurrent ...