ESPE Abstracts

Background: Patients with Turner Syndrome (TS) are at high risk for congenital heart disease (CHD), aortic dilatation and dissection with increased mortality and morbidity. Thoracic gadolinium-enhanced MRI angiography allows clear imaging of all great vessels and revealed a spectrum of silent vascular anomalies (VA), both venous and arterial, undetected at Echocardiography.The aim of this study is to retrospectively evaluate the prevalen...

Objective: Allostatic load (AL) refers to the physiological response that occurs in chronic stress burden, Excessive weight gain is an important source of physiological stress promoting chronic low-inflammation state detrimental for health. We estimated AL score among a pediatric population, in order to define a correlation between cumulative biological dysregulation and excess weight.Methods: We enrolled 164 children an...

Background: we depicted gender-differences in metabolic syndrome (MS) clustering before and after puberty in pediatrics, to identify early childhood prevention intervention and treatments.Methods: We considered 1079 children and adolescents. According to body mass index (BMI) percentiles the subjects were classified as normal weight BMI<75th, overweight BMI 75-95th and with obesity BMI>95th....

Background: Skeletal maturation is the most reliable indicator of biological age in children and adolescents. The evaluation of hand and wrist X-Ray according to Tanner-Whitehouse (TW3) or Greulich-Pyle (GP) are the most commonly used methods for biological age assessment. Automated bone age assessment has recently become increasingly popular, however a large independent study comparing automated and manual evaluation of bone age is still missing. The aim of this study was to ...

Aim: To evaluate the relationship between smoking and metabolic parameters in patients affected by type 1 diabetes (T1D)Patients and methods: We enrolled 104 children and young adults (50 females and 54 males) with T1D (aged 16.4±8.6 years). The subjects were divided into three groups according to their smoking habits: no smoking (NS), passive smoking (PS), active smoking (AS). The physical examination of the participants included nutritional status...

Background: Testicular adrenal rest tumours (TART) may develop in males with congenital adrenal hyperplasia (CAH), with a widely variable prevalence. Having no malignant features, there seems to be no need to remove them. However, these lesions may increase in size and number when exogenous hormone therapy is inadequate. Untreated, may lead to infertility and irreversible damage of the surrounding testicular tissue.Case report: We present two cases, diag...

Background: The influence of intrauterine life on long term health is supported by a wealth of epidemiological and experimental studies. A low oxygen and/or nutrient supply to the fetus, resulting in intrauterine growth restriction (IUGR), may affect gonadal development of the offspring, with a potential impact on fertility. Data derived from animal models of placental insufficiency are very limited.Objective and hypotheses: To investigate the effects of...

Background: NR5A1 mutations in 46,XY patients lead to various degrees of disorders of sex development (DSD). Familial cases have been described where the mother (heterozygous for the mutation) presented primary ovarian failure. Little is known about testicular function at puberty but most patients have biological markers of gonadal dysgenesis, raising fears of infertility.Objective and hypotheses: To describe a familial form of DSD due to NR5A1 mutation ...

Background: Cantù syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Other findings described are vascular abnormalities, pulmonary hypertension, generalized edema, mild learning disability and behavioral problems. Cantù syndrome is related to an heterozygous pathogenic variant in ABCC9 or KCNJ8, which can be inherited in an autosominal dominant manner or d...

Background: SHORT syndrome is an autosomal dominant genetic multisystem disorder determined by PIK3R1 gene mutations, which normally plays a role in cell signalling. SHORT is an acronym for short stature, hyperextensibility of joints and/or hernia, ocular depression, Rieger anomaly and teething delay. It is a rare condition; its prevalence is unknown with only few affected individuals and families reported worldwide.Case report: We report a case of 4 yea...