ESPE Abstracts

Background: Rabson-Mendenhall Syndrome (RMS) is a rare, autosomal recessive disorder characterized by hormonal and clinical features of insulin resistance (acanthosis nigricans, hirsutism, etc.) Other clinical features may include lipodystrophy and metabolic syndrome (hypertension, non-alcoholic fatty liver disease (NAFLD), hypertriglyceridemia and polycystic ovary syndrome). Biallelic loss of function mutations in the insulin receptor gene (INSR) affect insul...

The care provided to minors with gender diversity (GD) in the different communities of Spain is very different. A multidisciplinary management should be carried out from the health care point of view.Objective: To know the attitude of pediatricians in the field of Pediatric Endocrinology in order to make proposals for improvement in response to the needs expressed.Material and Methods: An anonymous...

A 12-month-old boy was admitted to the emergency department in Spain for a tonic-clonic seizure. The initial evaluation revealed metabolic acidosis (pH 7,33, bicarbonate 18,5 mEq/L), glycemia 50 mg/dL, sodium 135 mEq/L and potassium 7,3 mEq/L. After treatment for hypoglycemia, he was admitted for investigation. Physical examination was unremarkable. There was no family history of hereditary disorders nor consanguinity. Pregnancy was uneventful and the Portuguese neonatal scree...

Introduction: Complex diseases are defined by the interference of different genetic and environmental factors and the contribution of each factor is often hard to unravel. In this report, we present a case where different complex diseases intertwine.Case report: We report the case of a 12 month old girl who was addressed to the endocrinology department due to hypotonia and short stature. The pregnancy had been uneventful...

It is estimated that single-gene mutations are responsible for 3-10% of childhood obesity cases. The most common of these is a mutation in the MC4R gene, occurring in about 1-6% of children and 1% of adults with early-onset severe obesity. We report on of 7-year-old male twins with severe obesity (86% and 75% excess body mass relative to height), starting from the second year of life, along with hyperphagia. The boys were born from a twin pregnancy, PIII, CC, at 37 weeks of ge...

Introduction: The Body Mass Index (BMI) is an essential indicator for the nutritional assessment of children and reflects the exposure to health conditions that are harmful to the development of this population.Objective: To analyze the temporal trend of the BMI of Brazilian children, 0 to < 10 years old from 2010 to 2021.Methods: Descriptive ecological study. Data obtained from...

Background: Vitamin D (25OHD) insufficiency is becoming a public health issue. Adequate 25OHD status during pregnancy may influence the health status of the offspring.Objective: To evaluate the levels of 25OHD from gestation to 12 years, assessing seasonality and intake.Material and methods: Data were obtained from 485 pregnant mothers recruited in Asturias between 2004-2007 and th...

Introduction: Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by the presence of pancreatic-autoantibodies, which are diagnostic biomarkers. The detection of autoantibodies in first-degree relatives of patients with T1D is considered a risk factor for developing the disease; however, there is little information on how long it takes from the detection of autoimmunity to the clinical onset of T1D.Objectives:</st...

Introduction: Carbohydrate restriction (CH-R) in adolescents with obesity results in faster BMI reduction and glucose metabolism improvement than diets with normal carbohydrate proportion, without a higher weight regain in the short term. However, data on weight and metabolic trajectories of these patients after a more prolonged follow-up are sparse.Objectives: To evaluate metabolic and body composition evolution during ...

Background and Aims: Klinefelter syndrome (KS) is the most common chromosomal abnormality in men, but because of its highly variable phenotype and clinical unawareness, it remains largely under-diagnosed. Cardinal features include tall stature, gynecomastia, hypergonadotropic hypogonadism, azoospermia and infertility. Learning and behavioral problems are also common. Testosterone replacement therapy (TRT) helps to prevent or ameliorate many of the comorbiditie...