ESPE Abstracts

We describe a female neonate born from consanguineous parents who presented at birth with respiratory distress and severe hypoglycemia. At six months of age, the child was admitted to the Intensive care Unit because of two critical episodes characterized by fever and loss of consciousness. Child condition were critical and suggestive of sepsis, but blood tests showed severe hypoglycemia (19 mg/dl), hyponatremia (Na 132 mmol/l), compensated metabolic acidosis and increased infl...

Noonan syndrome is a genetic condition caused by dysregulation of RAS-MAPK pathway (RASopathy) characterized by great clinical variability and genetic heterogeneity. Many genes has been associated with the disease, including recently LZTR1, which is causative of both dominant and recessive forms. Currently less than one hundred cases of Noonan syndrome has been associated with LZTR1 variants then phenotype related to this gene is poorly known. Here we describ...

Beckwith Wiedemann syndrome (BWS) is a rare overgrowth disorder characterised by macroglossia, exomphalos, lateralised overgrowth, organomegaly, hyperinsulinism, and an increased risk of embryonic tumor during early life. In about 80% of BWS cases, molecular defects are identified at the imprinted 11p15.5 region which contains the IGF2 and the CDKN1C genes (most patients show methylation defects at either imprinting control region IC1 or IC2, or paternal unip...

Introduction: Pediatric obesity is associated with an increased risk of serious long-term complications. Therapeutic failure is influenced by several factors, such as the high dropout rate. A retrospective study was conducted on a cohort of children and adolescents with essential obesity, in order to evalute (1)the average duration of a correct follow-up and the percentage of weight loss at the end of it, (2)the rate of drop-out, researching related factors.</...

Introduction: The IGSF1 gene deficiency syndrome (IDS) is an X-linked disorder involving hormonal disfunctions. We report a case of Central Hypothyroidism (CH) due to a Xq26.1q26.2 microdeletion including the IGSF1 gene.Case: this boy was referred to our clinic for thyroid dysfunction. He was born at term by caesarean section due to maternal uterine myoma. Pregnancy was normal, parents were non consangu...

Aggrecan, encoded by ACAN, is a major proteoglycan component in the extracellular matrix of the growth plate. At least 25 pathological ACAN mutations have been identified in patients with highly variable phenotypes of syndromic or non-syndromic short stature. A 6-year-old boy was referred to our Centre for short stature (height 103.60 cm, −3.14 SDS) in familial short stature. Mid-Parental target height was 161.15 cm (−2.38 SDS); His father (height 167.3 cm) is from...

GR and GT are diamniotic monochorial preterm twins (32 GA), both AGA (GR: W -1 SDS, L -1.5 SDS; GT: W and L 0 SDS), with normal karyotype and array-CGH on amniotic fluid, with no major complications associated to prematurity. At birth GT presented bilaterally cryptorchidism associated with micropenis, GR presented normal male genitalia. In the first year of life a severe growth deceleration in length (from -3SDS to -5 SDS) was observed, mainly after six months of life in both ...

Background: Xhantogranuloma of the sellar region (XG) is a very rare brain tumor and is clinically and pathologically distinct from classical adamantinomatous craniopharyngioma, but the differential diagnosis is difficult because there are no typical neuroradiological signes. The characteristic and the outcome of XG in children remain still unclear.Objective and hypotheses: We aimed to describe a case report of XG and multiple pituitary hormone deficienc...

Background: Controversial data exist on the possibility that inhaled glucocorticoids (IGs) affect growth in children with mild-to-moderate asthma. The majority of these studies are short-term reports lacking long-term assessment until the achievement of final height (FH).Objectives: To assess whether IGs affect growth and FH in asthmatic children compared to controls.Methods: 113 asthmatic (57/56 (males/females)) were compared to 6...

GH and IGF1 regulate cell proliferation, differentiation and apoptosis playing a key role in growth, and leading to consider potential oncogenic effects of GH. To evaluate possible oncogenic risks in GHD patients who underwent GH replacement therapy, the SAGhE consortium was created. The data collected have not yielded definite conclusions and continuous surveillance is yet required. MiRNAs are regulators of gene expression, and are involved in many biological processes. We ai...