ESPE Abstracts

Introduction: Brown adipose tissue (BAT) secretes molecules capable of modulating systemic metabolism. Growth hormone (GH) has hyperglycemic action, produces lipolysis and increases muscle mass. However, there are no human studies on its effect on the BAT and lipidome.Aim: To evaluate the effect of GH on BAT and lipidome in small for gestational age (SGA) patients and its relationship with adherence to treatment.<p c...

Background: Nail-fold capillaroscopy (NFC), a non-invasive tool that can detect microvascular changes, has recently gained popularity in the diabetes field as a warning sign before the development of diabetes-related complications.Objective: We aimed to assess capillary microarchitecture in children with type 1 diabetes mellitus (T1DM) by comparing them with a healthy control group.Subjects...

Introduction: Pituitary stalk interruption syndrome (PSIS) is a rare congenital disorder characterized by absent, thin, or interrupted pituitary stalk, absent or ectopic neurohypophysis, and hypoplasia or aplasia of the adenohypophysis. It often accompanies midline abnormalities and diverse endocrine dysfunction, with its etiology largely unknown. Recent reports have linked mutations in the ROBO1 gene to PSIS.Aim: To des...

Introduction: Congenital disorders of glycosylation (CDG) are metabolic conditions resulting from defects in the glycosylation pathway. In addition to the primary neurological symptoms, other possible clinical findings may include distinctive coagulation abnormalities, as well as hepatic, gastrointestinal and, less frequently, hormonal disorders. The ALG1 gene defect is the third most prevalent CDG and compromises β-1,4 mannosyltransferase activity, which...

Objective: The objective of this study was to investigate the clinical presentations, laboratory findings, treatment modalities, follow-up strategies employed for children with levothyroxine (LT4) poisoning.Materials-Methods: The study encompassed patients admitted to the respective centers between 2010-2023, who fulfilled the predefined study criteria. Findings were presented as percentages (%), median values with inter...

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...

Purpose: MODY is a monogenic diabetes with autosomal dominant inheritance that usually occurs in adolescence or young adulthood. It constitutes 1% of diabetes cases in childhood. The diagnosis of MODY is very difficult due to genetic heterogeneity, rarity, and clinical overlap with other diabetes types. In recent years, the diagnosis of MODY has become easier with genetic developments. On the other hand, misinterpretation of results can cause confusion. In thi...

Introduction: Rabson-Mendenhall Syndrome (RMS) is an autosomal recessive, extremely rare, serious insulin resistance syndrome that occurs as a result of mutation in the insulin receptor (INSR) gene. Pathogenic variants in the INSR gene cause a broad spectrum of inherited insulin resistance syndromes. Here, a male case who presented with the complaint of diffuse acanthosis nigricans and was diagnosed with RMS is shared. Case Repor...

Aim: to assess and follow-up anthropometric and biochemical parameters in patients with abdominal obesity after a lifestyle intervention.Patients, Material and Methods: 122 children and adolescents with abdominal obesity, aged 7 to 16 years, were included in a control randomized intervention study (NCT031472). Abdominal obesity was diagnosed using the waist circumference. The intervention included an intensive phase duri...

Background & Aims: Hypoglycaemia is a constant threat for all patients with congenital hyperinsulinism (CHI) and, left untreated, can lead to neurological damage and impaired development. To improve glycaemic monitoring, self-monitoring-blood-glucose (SMBG) is increasingly being replaced by Continuous Glucose Monitoring (CGM) with potential to identify illness patterns and treatment responses although with unproven benefit for patients and families. Explor...