ESPE Abstracts

Background: Endocrine-disrupting chemicals (EDCs) are serious and urgent threats to public health, due to the potentially serious adverse effects of EDCs on endocrine processes during susceptible periods of human development.Objective: To evaluate the levels endocrine disruptors at gestation.Material and methods: A pilot study. Data were obtained from 30 pregnant mothers recruited ...

Introduction: Craniopharyngioma (CP) is a histologically benign rare tumor from the sellar and parasellar region. Its invasion into adjacent structures, namely optic nerve and hypothalamic-pituitary axis brings significant morbidity and warrants surgical treatment. Hypothalamic Syndrome (HS) can occur in different conditions affecting this structure, comprising a cluster of symptoms like pituitary dysfunction, obesity, temperature dysregulation, sleep disturba...

Introduction: Precocious pubarche (PP) is characterized by the early development of pubic hair and clitoral enlargement in girls. While commonly attributed to adrenal-related causes, such as congenital adrenal hyperplasia or adrenal tumors, ovarian sources are infrequent etiologies. In this report, we present a clinical case of a young girl with PP due to a rare source.Case Report: A 1.7-year-old girl presented with the ...

In recent years we have witnessed an increase in the demand for health care by minors with gender diversity. Comprehensive biopsychosocial care for these individuals is a complex process, which must be facilitated for all of them.Objective: The survey strategy aimed at primary care pediatricians aims to provide the starting point for proposals for improvement, in response to the needs expressed by professionals. It is also intended to co...

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...

The COVID-19 pandemic has an impact on the incidence of type 1 diabetes. It is important to synthesize estimates of changes in incidence rates.Aim: To compare the incidence rates of type 1 diabetes mellitus (T1DM) in children of Saratov region during and before the COVID-19 pandemic.Patients and Methods: This is a retrospective multicenter study involving new onset T1DM paediatric patients (0-17 y....