ESPE Abstracts

Hyperinsulinemic hypoglycemia (HH) is common in newborns. If hypoglycemia occurs after the first 48 hours following birth, it may be a sign of an underlying condition. We present the case of a baby girl born at 38 weeks of pregnancy, with good adaptation to extrauterine life and blood glucose of 60 mg/dl in the first days of birth. Approximately 2 days after discharge, she was addressed at the emergency unit because of food refusal for approximately 30 hours, with a blood suga...

Background: In our center for adults with rare genetic syndromes, we see adolescents and young adults with overgrowth syndromes, among others. In our 'general endocrinology' outpatient clinic, we also see patients with overgrowth, but in these cases the overgrowth is due to excess of growth hormone (GH). Our clinical impression is that the differentiation between the two is often challenging. Therefore, we believe it is important to emphasize the dif...

Introduction: Transgender people and the gender transition process requires a series of processes with psychosocial, legal and physical implications. In our community, with the establishment of the care plan for trans youth, reference units were created in 2015. We had an interest to analyze the different epidemiological variables and the type of care demand of this population cared for in our unit.Methodology: An observ...

Introduction: CHARGE syndrome is a rare constellation of congenital malformations caused by mutations in CHD7 gene. The acronym stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities, and/or hearing loss. Endocrine disorders associated with this syndrome include hypogonadotropic hypogonadism, ...

Background: Bone involvement is described as a relevant sign in patients suffering Gaucher disease (GD).Objective and hypotheses: To analyze the long-term effect of enzyme replacement therapy on bone mineral density, a retrospective observational study was conducted in a cohort of 34 GD pediatric patients (14 males, 20 females, median age 11.3 years).Method: Lumbar spine (LS) (L2–L4, N: 34) and total body (TB) (N: 24) bone min...

Leydig cell tumors(LCTs) are rare testicular tumors, representing 1-3% of them. They are usually unilateral but can be bilateral up to 3%. Its incidence is bimodal, peaking at 5-10 years (20%) and 25-35 year (80%). Malignant transformation has not been clearly proven in children, whereas in adults they are malignant in 10% of cases. The main clinical manifestation is a palpable, painless testicular mass associated in a variable percentage with endocrinological manifestations t...

Background: Vitamin D adequate concentration is essential for growth, development and health during vital cycle. Hypovitaminosis D pandemic is associated with a wide range of pathologies.Objective and hypotheses: The objectives of the present study were to characterize vitamin D status in children and adolescents residing in Galicia (Northwest of Spain, latitude 43°N) and to determine if serum 25-hydroxy-vitamin D (25(OH)D) concentration is related ...

Introduction: The highest prevalence of children and adolescents with obesity in Europe is observed in the south countries. This epidemic is related to unhealthy eating patterns, decreased physical activity and increased inactivity.Objective: To determine the relationship between adiposity degree and physical activity and inactivity in children and adolescents.Methods: 338 children from 6 to 8 years of age (x=11.11 years);...

Background: Gestational obesity has not only adverse effects on the mothers’ health but also on the developing fetus. Newborns of obese pregnant women have increased birth weight and increased risk for obesity and associated diseases in adulthood. The mechanisms by which maternal nutrition induce these changes in the offspring may involve microRNAs (miRNAs) regulation.Aims and objectives: To study the associations between circulating miRNAs altered ...

Background: miRNAs are valuable circulating biomarkers and therapeutic targets for metabolic diseases. A differential pattern of miRNAs has been described in pregnant women with preeclampsia or gestational diabetes; however, it is unknown whether maternal obesity affects the profile of circulating miRNAs.Aims and objectives: To define the circulating pattern of miRNAs in pregestational and gestational obesity; and to explore their associations with mater...