ESPE Abstracts

The proband is a Caucasian girl with primary amenorrhea and no breast development at the age of 16 11/12 yrs. Unrelated parents; an older brother in good health and a twin brother (GA 31 days; BW 1450g) with reported agenesis of the corpus callosum and socio-emotional behavioral problems. The mother (menarche 14 yrs. and bicornuate uterus) presented four early spontaneous abortions and one stillborn fetus (46, XX) in the 6th month of pregnancy; remaining negative family histor...

Background: Several studies have shown that type 1 diabetes mellitus (T1DM) may contribute to the early onset or acceleration of cognitive impairment (intelligence, psychomotor efficiency, information management speed, visual attention, visual perception and cognitive flexibility). Tear proteomics seems to provide useful information for understanding the molecular mechanisms of various ocular and systemic diseases.Objective and H...

Background: Accumulating evidence has indicated that assisted reproductive technologies (ART) influence the metabolic physiology of the offspring, with a higher predisposition to metabolic disorders. Long-term metabolomic studies that separately consider males and females conceived with intra-cytoplasmic sperm injection (ICSI) vs naturally conceived (NC) children are needed. Previously, we had reported that ICSI-conceived prepubertal girls exhibit significant alterations in th...

Background/Aims: Since the introduction of Assisted Reproduction Technologies (ART), including classic In Vitro Fertilization (IVF) and Intacytoplasmic Sperm Injection (ICSI), in clinical practice, several studies have addressed concerns regarding the long-term health of the offspring, revealing indications of an adverse cardiometabolic outcome. Proprotein convertase subtilisin/kexin type 9 (PCSK9) circulating level is significantly associated with an increased risk of cardiov...

Background: Oxidative stress and adipocytokines are associated with obesity.Objective and hypotheses: To investigate the association of adipocytokines with markers of pro- and anti-oxidation at baseline and their change and correlations during acute aerobic exercise in normal weight and obese pre- and early-pubertal boys.Method: Fifty healthy pre- and early-pubertal, normal weight and obese boys, underwent a baseline blood sampling...

Background: Implementation of neonatal screening programs for congenital hypothyroidism (CH) has reduced related nosologies and has eradicated CH-associated mental impairment. With the decrease of the TSH cut-off limits employed to avoid false negative results, milder cases of CH are diagnosed. Obviously, in a number of patients, especially among milder CH cases, thyroid dysfunction is transient. The diagnosis of transient vs. permanent CH is established in time. No specific p...

Introduction and aim: Parental health is associated with children’s health and lifestyles. Thus, the aim of the present study was to assess lifestyle behaviours of children from parents with insulin resistance (IR) and at risk of type 2 diabetes.Methods: 2117 European parents from six countries included in the Feel4Diabetes-study measured in 2015 and identified as being at risk for diabetes with the FINDRISC questio...

Background: Counselling adolescents with chronic diseases can be challenging when it comes to appropriate interview techniques and the doctor's attitude towards the patient. Successful communication can be a key element of treatment. Motivational interviewing (MI) is widely applicable in the management of behavioural problems and illnesses, as it increases patients' motivation for lifestyle changes. This plays a particularly important role in the tre...

Introduction: Carney Complex is a rare genetic disorder inherited in an autosomal dominant manner or may occur sporadically due to de novo mutations. It is characterized by the presence of cardiac myxomas, psammomatous melanotic schwannomas, skin pigmentation (blue nevi, lentigines) and multiple endocrine and non- endocrine tumors. It is caused by inactivating mutations or large deletions of the PRKAR1A gene. Management of the syndrome involves ongoing surveil...

Keywords: short stature, underweight, overweight, obesityIntroduction: Natural growth is an important indicator of health in childhood. Growth retardation can result from systemic and endocrine diseases or poor diet. Being overweight or obese in childhood increases the risk of morbidity and mortality in adulthood. This study, the first of its kind in Morocco, was conducted to compare the prevalence of growth disorders am...