ESPE Abstracts

SHOX gene haploinsufficiency is a well-documented cause of short stature and skeletal abnormalities; SHOX duplications appear very rare and of uncertain clinical significance. If relatively extended, they can result in SHOX overexpression with normal or tall stature. Partial SHOX duplications seems to have a more deleterious effect on skeletal dysplasia and short stature than complete SHOX duplications. MLPA (Multiplex Ligation-dependent Probe Amplification) analysis of SHOX/P...

Background: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation and Neural tumor (ROHHADNET) is a rare condition. The first symptom is the appearance of rapid onset obesity (2–4 years) followed by central hypoventilation, hypothalamic dysfunction, dysautonomic symptoms and neural tumors.Objective and hypotheses: Aim of this study was to evaluate adrenal function in ROHHADNET patients from a single-center.<...

Introduction: Neurodevelopmental disability (NDD) is a common problem in children health, occurring in 5–10% of the pediatric population.Aim: To evaluate the endocrine and metabolic complications described in patients with NDD.Material and method: Children with NDD, aged below 9 years old, admitted to 1st Pediatric Clinic of Children Emergency Hospital, Timişoara, România, between January 2014-March 2016 w...

Background: ROHHADNET syndrome affects children with normal development until 2–4 years. A paraneoplastic/autoimmune etiology has been suggested because of the association with neural crest tumours.Objective and hypotheses: Aim of this study was to describe the phenotype of ROHHADNET patients, and to evaluate a possible role of autoimmunity in this disorder. In spite of a suspicion for genetic etiology, disease-associated genetic variations have not...

Background: Recent studies demonstrate that children with Congenital Adrenal Hyperplasia (CAH) may develop visceral adiposity and insulin-resistance. Data on adipocytokines are scanty and contradictory.Objective: To evaluate leptin and adiponectin concentrations in CAH adolescents and investigate their correlation with glucocorticoids and hormonal and metabolic profile.Methods: Leptin, adiponectin, insulin and HOMA were evaluated i...

Background: Gorham-Stout syndrome (GSD) is a rare disorder characterized by lymphangiomatosis, osteolysis and potentially lethal in the presence of chilothorax.Objective and hypotheses: As the management of GSD is not univocal and outcomes are unpredictable we build a multifaced protocol in order to study its natural history, biomarkers of bone disease and to treat uniformly patients.Method: Seven patients (five males, two females,...

Background: Polycystic ovary syndrome (PCOS) represents one of the most common complains for adolescent girls to present to endocrinologist. PCOS has the potential to affect the young person both metabolically, physically, psychologically and socially.Objective: To evaluate the metabolic and psychological consequences of PCOS in adolescent girls.Method: Adolescent girls admitted in the Endocrinology Department of Children Emergency...

Introduction: I. was born at term by emergency caesarean delivery due to foetal distress, by unrelated parents. Birth weight: 2160 g (-3.18 SD), length 41.5 cm (-4.47 SD), head circumference 35.4 cm (0.57 SD). He was admitted in the neonatal intensive care unit (NICU) for the severe growth retardation associated to dysmorphic features. Neonatal screening, echocardiography and brain ultrasound normal. Karyotype: 46,XY.Case present...

Key Words: obesity, subclinical hypothyroidism, childrenIntroduction: There is a growing interest in the relationship between obesity and thyroid dysfunction, even more so nowadays when obesity has become a widespread global issue. Initially believed to be the cause of obesity, the risk of developing hypothyroidism may be increased in obese children due to adaptive mechanisms. The study aims to evaluate the prevalence of...

Keywords: COVID 19, height trajectory, rGHBackground: Various factors can interfere with height and body mass index (BMI) trajectories and therefore, auxological parameters reflect children’s health status. The COVID-19 pandemic has had an important impact on all the social determinants of health.Aim: The aim of the current study was to assess the effect of recombinant growth...