ESPE Abstracts

Introduction: The Covid-19 pandemic drastically modified social life and lifestyle in particular among children and adolescents, promoting sedentary behaviors and unhealthy eating habits. In this scenario, the effectiveness of the outpatient approach for pediatric obesity may decrease.Objectives: Aims of this study were to assess the rate and the factors associated with outpatient drop-out by comparing two groups of chil...

Insulinoma is a rare neuroendocrine tumor, usually benign, but can be life-threatening in causing hypoglycemic accidents. It presents in individuals aged between 8 and 82 years and can occur sporadically or constitute a part of multiple endocrine neoplasia type 1 (MEN-1).The nonspecific-symptoms and small size of these tumors led to difficulties of diagnosis and localization.Here we describe the case of a 11-year-old boy, who came to our attention for a ...

Background: Asprosin is an adipokine involved in glucose homeostasis and its plasma levels physiologically increases in fasting conditions and decreases with refeeding. In non-diabetic children and adolescents with obesity, insulin resistance (IR) and impaired fasting glucose (IFG) seem to influence the physiological variation in meal-related asprosin levels 120 minutes after an oral glucose load (Corica et al. doi:10.3389/fendo.2021.805700). No data ...

Background: The typical biochemical phenotype related to obesity, that is high serum thyrotropin (TSH) within normal range, low/normal free thyroxine (FT4) and increased free triiodothyronine (FT3) levels, can be interpreted as a resistance to thyroid hormones. It is unclear the role played by thyroid hormones in the pathogenesis of metabolic derangement associated with obesity.Aim: To investigate the association between...

Background: Distal chromosome 16 duplication syndrome, also known as 16q partial trisomy, is a very rare genetic disorder. Smaller chromosomal copy number variants (CNVs) within the 16q region create partial trisomies, which occur less frequently than full trisomy 16q. Trisomy 16q is generally associated with a multisystemic phenotype including intrauterine growth restriction (IUGR), brain and cardiac defects, intellectual disability and an increased risk of b...

Introduction: Familial male-limited precocious puberty (or testotoxicosis) is a very rare genetic disorder with autosomal dominant transmission that causes gonadotropin-independent precocious puberty due to mutations activating the lutropin-chorionic gonadotropin receptor (LHCGR), which lead to elevated testosterone levels and suppressed gonadotropins. The age of onset is between 2-5 years essentially with penis and testes enlargement, linear growth accelerati...

Background: Management of subclinical hypothyroidism (SH) in infancy is still controversial. According to the European Guidelines for Congenital Hypothyroidism (CH), in case of TSH levels between 6 and 20 µUI/ml, both levothyroxine (L-T4) therapy and a wait-and-see approach can be considered.Aim: to describe the evolution of SH diagnosed in newborns recalled by neonatal screening (TSH values ≥7µUI/ml)....

Background: Prolonged severe hypothyroidism due to Hashimoto’s thyroiditis (HT) is a rare cause of pituitary hyperplasia (PH) in children. Loss of thyroxine negative feedback causes a TRH-dependent hyperplasia of pituitary thyrotroph cells resulting in adenohypophysis enlargement. A transdifferentiation of pituitary somatotroph cells into thyrotroph cells could explain growth failure in those patients. We report a case series of patients with growth impairment diagnosed...

Background: Disorders of sex development (DSD) are often due to disruption of the genetic programs that regulate gonad development. Some genes have been identified in these developmental pathways such as DAX-1, SOX-9, GATA-4 and others. The GATA-4 gene, located on chromosome 8p23.1, encodes GATA-binding protein 4 (GATA-4), a transcription factor that is essential for cardiac and gonadal development and sexual differentiation. Congenital heart disease (CHD) and...