ESPE Abstracts

Background: Precocious puberty (PP) in girls is most frequently an idiopathic gonadotropin-releasing hormone (GnRH)-dependent PP, being thelarche the typical first sign. It is well established that increased dehydroepiandrosterone sulphate (DHEAS) levels are associated with premature adrenarche and may characterize PP too. However, its relationship with signs of hypothalamic-pituitary-gonadal (HPG) axis activation and estrogen exposure is still to be elucidate...

Introduction: Children born small for gestational age (SGA) represent a heterogeneous population, displaying different phenotypes for both growth and metabolic status. Low birth length and/or weight increases the risks for not only growth impairment but also for metabolic derangements (cardiovascular disease, hypertension and type 2 diabetes), the latter with an even amplified risk in children with rapid postnatal weight gain. Variability in metabolic paramete...

Introduction: Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare cause of childhood hyperthyroidism caused by an activating variant of the thyroid stimulating hormone receptor (TSHR) gene. This disorder may occur as a result of an autosomal dominant inheritance or sporadically through de novo variation. The severity of hyperthyroid symptoms is variable and phenotype differences have been described in subjects harbouring the same mutati...

Background: Severe congenital growth hormone deficiency (cGHD) is a rare but potentially life-threatening condition. Even though random growth hormone (GH) can confirm cGHD during the first week of life, the diagnosis remains extremely challenging in the absence of reliable reference values in healthy neonates and thus of a best diagnostic cut-off.Aims: First, to provide solid reference values for GH concentrations in te...

Background and aim: Congenital growth hormone deficiency (cGHD) is a rare but life-threatening condition whose diagnosis is challenging in the absence of reliable reference values, both in healthy neonates and in preterm ones. We recently estimated GH reference interval in 1036 healthy, at-term newborns (HN) form dried blood spot samples using a previously validated analytical method.Aim: of this study is to provide valu...

Early life events can profoundly affect an individual’s metabolic phenotype, inducing adaptive responses that may be protective in utero but potentially disadvantageous for long-term health. Indeed, environmental cues during sensitive windows of development may result in altered growth and lead to an increased risk of cardiovascular and metabolic alterations later in life. In this talk, I will discuss several models of exposure to early life events, which were th...

Decreased resting metabolic rate (RMR) is a risk factor for the development and progression of obesity. Childhood obesity is accompanied by the development of metabolic disorders, which often persist in adults. The relationship between the rate of basal metabolism and development of childhood obesity complications is not well understood.Objective and hypotheses: Measure resting metabolic rate in obese children and assess the pronouncement of metabolic di...

Introduction: Noonan syndrome (NS) is an autosomal dominant disorder that involving multiple organ systems, with an incidence of 1:1,000 to 1:2,500.The clinical features as short stature, dysmorphic facial features, congenital heart defects most commonly pulmonary valve stenosis, typical chest, cryptorchidism. The PTPN11 gene is located on the long arm of chromosome 12q24.1 and encodes for the non-receptor protein tyrosine phosphatase SHP-2 (SHP2), generating ...

Background: Prader-Willi syndrome (PWS) is a complex, multisystem disorder and is the most frequent cause of syndromic obesity that arises from lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. Its major clinical features include neonatal hypotonia, short stature, developmental delay, behavioral abnormalities, hyperphagia, childhood onset obesity, hypothalamic hypogonadism, and characteristic appearance.Case history: We ...

Background: Patients with Turner’s syndrome (TS) develop osteoporosis, resulting from chromosomal deficiency and estrogen deficiency by gonadal dysgenesis.Objective and hypotheses: The aim of this study was to assess bone mineral density (BMD) and parameters of bone remodeling during somatropin therapy in prepubertal girls with TS.Population and/or methods: We examined 22 girls with TS of the age of 11–15 years (the mean ...