ESPE Abstracts

Introduction: Extreme hypertriglyceridaemia is uncommon in the paediatric population but can have devastating consequences. It can lead to acute pancreatitis, cutaneous eruptive xanthomas and lipaemia retinalis. Severe hypertriglyceridemia likely accounts for 1-10% of acute pancreatitis cases in adults but there is limited data in children. We report a case of new-onset type 1 diabetes mellitus (T1DM) presenting in diabetic ketoacidosis (DKA) with acute pancre...

Objective: to assess diagnostic usefulness and accuracy of different tools in patients with Kallmann syndrome and ichthyosis due to X-chromosome microdeletion.Materials: сongenital hypogonadotropic hypogonadism due to KAL1 pathological variants manifest with micropenis, cryptorchidism, delay of puberty, and not associated with disorder of sex development. This condition can be associated with ichthyosis due to deletion of X chromosome region with genes KAL...

Background: Monogenic defects are among the significant causes of early-onset non-syndromic severe obesity in childhood. Identifying the genetic cause of obesity can guide for treatment. The aim of our study is to investigate the clinical and biochemical features of patients with early-onset severe obesity and evaluate the underlying molecular diagnosis.Materials and Methods: A total of 39 patients (M/F: 22/17) with non-...

Accumulating evidence indicates various interactions between the GH-IGF1 axis and the immune system in infants and children during undernutrition.Objectives and Methods: We performed electronic literature systematic review using PubMed, Google Scholar, and Web of Sciences with the aim to provide an update on the link between the GH-IGF1 axis and the immune system in infants and children during malnutrition. We reviewed 22 studies (2007-2...

The source of hyperandrogenism can be adrenal, gonadal, mixed or exogenous. The reason of excessive androgen secretion for age can be primarily gonadal/adrenal or it could be secondary to trophic stimulation (LH, hCG, ACTH, insulin, IGFs). Clinical signs of hyperandrogenism in children include virilization (clitoral hyperplasia, labial fusion, even unclear sex in a newborn), premature pubarche, premature penile growth, accelerated linear growth, increased musculature, acne and...

Background: Leptin receptor deficiency leads to severe early-onset obesity and pituitary dysfunction. Here we present the first case of monogenic obesity due to a novel mutation in LEPR gene in Russia.Case report: 16-year-old female patient was admitted to our hospital with morbid obesity and primary amenorrhea. She was born at term with a birth weight of 3360 g to non-consanguineous parents. She had a mild deve...

Hypothyroidism is the most common thyroid disorder in children. It usually presents with nonspecific symptoms, that can be mild and occur slowly over time, compromising a timely diagnosis, with possible effects on pituitary gland, multiple organs and growth. In case of long-standing unrecognized hypothyroidism, myxedema or myxedema coma can occur, rare but severe conditions. This case report describes an adolescent presenting with extensive trunk and neck swelling. After exclu...

The obesity pandemic is likely multifactorial, comprised primarily of reduced caloric expenditure and increased caloric intake secondary to dietary changes, coupled with host genetic predisposition and other environmental exposures. The role of the host microbiome in metabolism, energy expenditure, and metabolic disorders, including obesity, has more recently come under scrutiny as well. For example, several perturbations in the host microbiome have been associated with obesit...

Subclinical hypothyroidism (SH) is a biochemical condition defined by increased TSH serum concentration above the upper limit of the reference range associated with normal concentrations of T4 and Free T4. Depending on the degree of TSH elevation SH can be defined mild for TSH values between 4.5-10 mIU/l and severe for TSH levels >10 mIU/l.The major cause of SH is chronic autoimmune thyroiditis, other causes are persistent neonatal hyperthyrotropinem...

Introduction: Newborn premature infants are susceptible to develop relative adrenal insufficiency (AI) following transition from fetal to extrauterine life. Clinical signs of AI include hypoglycemia, dysbalanced electrolytes, fatigue and low blood pressure. Collecting serum cortisol samples itself is stressful for the infant, which challenges - in addition to analytic problems due to interference between fetal, placental and maternal derived steroids – th...