ESPE Abstracts

Background: The iNCGS Registry monitored long-term safety and effectiveness of NutropinAq® (Somatropin injection) for paediatric growth disorders.Objective: To report year-1 effectiveness and safety data from the iNCGS registry (NCT00455728).Methods: Open-label, non-interventional, post-marketing surveillance study, in seven European countries from October 2005–December 2016. Measurements included height Standa...

Turner Syndrome (TS) is a relatively common chromosomopathy and according to epidemiological studies the prevalence of Autoimmune thyroiditis (AIT) in TS fluctuates from 10% to 21% versus 1.3% in the general population.Objective: – to retrospectively evaluate thyroid autoimmune disorders and thyroid function in a group of 93 TS patients.– to compare the prevalence of AIT and thyroid dysfunction in subgroups of TS accordin...

Background: Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder involving a predisposition to tumor development, etiologically connected with genetic/epigenetic dysregulation. The main features of BWS include omphalocele, macroglossia and macrosomia; however there is significant clinical heterogeneity. SHOX mutation is a frequent cause of short stature with high penetrance, but extremely variable clinical expression. The mean adult height is -2.2 SDS. The presence of m...

Background: Gonadotropin-releasing hormone analog (GnRHa) is the gold standard treatment for central precocious puberty (CPP). In recent years, increased prevalence of polycystic ovary syndrome (PCOS) has been reported in girls treated with GnRHa for CPP. Attributes of PCOS overlap normal pubertal changes, making the diagnosis of PCOS during adolescence controversial.Aim: To assess the metabolic profile, the prevalence of PCOS and describe its phenotypes...

Introduction: Ovarian stimulation syndrome (OSS) in an infrequent disorder, in preterm infants under 30 weeks gestation. The are very few cases described in the literature. The immaturity, lack of gonadal axis feed-back or mutations in the FSH receptor genes, may explain its physiopathology. We present the case of a 26-week neonate with this syndrome.Case summary: 26-week newborn with extremely low weight (460g) born by emergency cesarean section due to ...

Introduction: The Immune Thrombocytopenic Purpura (ITP) and Graves Disease (GD) have in common an autoinmune physiopathology. ITP is characterized by a platelet count less than 100 × 106/l in the absence of other cause. On one hand, ITP has been associated with thyroid dysfunction, without developing GD. On the other hand, GD might develop with moderate thrombocytopenia, generally more than 100×109/l. It is described that in most cases ITP might...

Background: Metabolic syndrome (MS) is a long-term complication of pediatric haematopoietic stem cell transplantation (HSCT) and it was described more often in patients who were exposed to total body irradiation (TBI). Since previous studies reported discrepancy in the presence of metabolic complications in HSCT survivors who underwent chemotherapy-only conditioning, we investigated the frequency of MS in our HSCT-treated children for various disorders without being exposed to...

Background: The genetic causes of primary hyperaldosteronism are still being discovered.Results: We present the case of a 17-years-old girl who was found by accident with severe hypertension (TA 180/100 mmHg, bilateral). Her personal history was unremarkable. Her father had hypertension and a paternal aunt had died at 55 due to a stroke. Both her sisters and mother had normal blood pressure. The cardiological examinationshowed concentric left ventricle h...

Background: Pheochromocytoma is an uncommon tumor, producer of Catecholamines and causing hypertension in childhood. It is associated to genetic alterations, generally related with RET gene disorders.Method: We present the case of a unilateral familial isolated pheochromocytoma, present in father and son, carriers of a heterozygous mutation in the VHL gene (c.235C > G; p.R79G).Case: Male, 9 years-old with history of fever, prof...

Background: Fetal growth is partly regulated by epigenetic factors, such as DNA methylation. Altered methylation status in placental genes relates to gestational diabetes, preeclampsia and prematurity. However, the epigenetic mechanisms underlying fetal growth restraint in uncomplicated pregnancies remain unknown.Objective and hypotheses: We aimed at identifying new candidate genes related to fetal growth, by assessing DNA methylation profiling in placen...