ESPE Abstracts

Background: Use of recombinant human growth hormone (somatropin) is recommended for children with growth hormone deficiency (GHD) to normalize adult height and avoid extreme short stature. Prior research conducted among small study samples, across different study populations and health care systems, has suggested an association between adherence to somatropin and clinical outcomes, including height velocity. There is a need for further research, using real-wor...

Introduction: Thyroid dyshormonogenesis (TD) is a heterogeneous group of genetic diseases caused by the total or partial defect in the synthesis or secretion of thyroid hormones. It presents clinical heterogeneity, from subclinical hypothyroidism (SH) to goitre. The clearer understanding of the pathways and enzymatic activities involved in the synthesis of thyroid hormones has allowed us to identify an important number of causal genes. Defective organification...

Introduction: The thyrotropin receptor (TSHR) has a key role in the thyroid gland. It is involved in folliculogenesis, differentiation, organogenesis, and thyroid hormone synthesis and production. Its genetic defects can cause poor differentiation (thyroid dysgenesis) and/or thyroid malfunction (thyroid dyshormonogenesis, TD). Therefore, its phenotype spectrum is wide, ranging from severe congenital hypothyroidism (CH) to mild hyperthyrotropinemia. Some hetero...

Introduction: Tuberous sclerosis complex (TSC) is an autosomal dominant condition caused by a loss-of-function mutation in tumor suppressor genes TSC1/TSC2 which are involved in the inhibition of mTOR signaling implicated in cell proliferation. Major clinical features includes cardiac rhabdomyomas, renal cysts, epilepsy associated to cerebral dysplasia evidenced by cortical tubers and skin manifestation as: angiofibromas, fibrous plaques and the Shagreen patch...

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of growth retardation. Diagnostic criteria include age- and sex-dependent low basal IGF1 levels (<2.5th percentile), height ≤ −3SDS, absence of growth hormone (GH) deficiency and of any secondary causes of growth failure.Objectives: Phenotypic description, follow-up and molecular studies in a cohort of patients diagnosed with growth f...

Background: Polycystic ovarian syndrome (PCOS) is the most common endocrine disease among women of reproductive age with a prevalence of about 8% according to the Androgen Excess Society (AES) criteria. The pathophysiology of PCOS is not well understood and it is associated with a high prevalence of metabolic disorders. During puberty, irregular menses and acne are common, thus making the diagnosis of PCOS in adolescence challenging.Objective and hypothe...

Background: Homozygous natriuretic peptide receptor-2 (NPR2) mutations cause acromesomelic dysplasia, type Maroteaux, a skeletal dysplasia with extreme disproportionate short stature and recently, heterozygous NPR2 mutations have been identified also in patients with idiopathic short stature (ISS, 2–6%). SHOX mutations are found in ~2–5% of ISS cases and ~70% of Léri-Weill dyschondrosteosis (LWD) cases, characterized by disproportionat...

Introduction and aim: Parental health is associated with children’s health and lifestyles. Thus, the aim of the present study was to assess lifestyle behaviours of children from parents with insulin resistance (IR) and at risk of type 2 diabetes.Methods: 2117 European parents from six countries included in the Feel4Diabetes-study measured in 2015 and identified as being at risk for diabetes with the FINDRISC questio...

Introduction: Thyroid hormones regulate body composition and metabolism, and are among the key drivers of body growth and maturation. In children, associations of cardio-metabolic measures with the circulating prohormone thyroxine (T4) have been extensively studied, but not with active triiodothyronine (T3). In apparently healthy children, we studied whether circulating free T3 (fT3) [and its ratio with free T4 (fT3/fT4)] associates with cardio-metabolic measu...

Background: Type 2 diabetes (T2D) is an emerging disease in the pediatric population. T2D is associated with metabolic-associated fatty liver disease (MAFLD). High-density lipoproteins (HDLs) are lipoproteins that are believed to have atheroprotective properties that reduce the risk of cardiovascular disease (CVD). Current evidence suggests that the physicochemical and functional features of HDLs may play a key role in the pathogenesis of atherosclerosis.<...