ESPE Abstracts

Background: Congenital hypopituitarism (CH) genetics is highly heterogeneous. The massive use of NGS identified at least 21 desease causing genes. Not fully understood inheritance mechanism, incomplete penetrance and variable expressivity explain the complexity of phenotype-genotype correlations. To further complicate the scenario, the co-occurence of more than one desease-causing genes variants can geopardize the phenotype. Herein, we report the heterogeneous...

Background: Primordial dwarfism (PD) is a phenotype characterized by profound growth retardation and microcephaly that is prenatal in onset. Recently mutations in genes involved in ciliogenesis have been described in patients with primordial dwarfism phenotype. In 2012 mutations in rotatin (RTTN), a protein involved in cilia structure and function, have been described in in individuals with bilateral diffuse polymicrogyria, but not growth failure.Case pr...

Introduction: Heterozygous mutations in IHH are known to cause Brachydactyly type A1 (BDA1), in which the typical clinical features are bilaterally short-ening or absence of the middle phalanges of most digits of hands and feet, shortness of 1st proximal bone and short stature; althougt short stature is considered part of BDA1, in most reported cases is not always present or unrelevant compared to the stature of unaffected relatives. Recently heterozygous mutations ...

Background: Silver Russell Syndrome (SRS) is characterized by pre- and postnatal growth failure, relative macrocephaly at birth, prominent forehead, feeding difficulties and body asymmetry. The diagnosis is clinical, the genetic mechanisms involved are different, in 50% of cases loss of methylation (LOM) at the paternal H19/IGF2:IG-DMR (chr11p15.5), in 10% of cases maternal uniparental disomy of chromosome 7 (UPD(7)mat), cases of maternal uniparental ...

Background: Cardiovascular diseases are the leading cause of premature death among women with Turner syndrome (TS). Studies in youth with TS suggest that cardiometabolic-related dysfunction is present in childhood, however these small convenience samples may not be generalizable to the whole TS population. PEDSnet, the largest pediatric Health Learning System in the United States (US) representing >6 million children, offers a unique opportunity to examine ...

Background: Coeliac disease (CD) can be associated with impaired growth in children after a prolonged period of Gluten-free diet (GFD). A small percentage of CD patients does not show catch-up growth during GFD because of GH secretion deficiency (GHD) that could be associated with antipituitary autoantibodies (APA).Objective and hypotheses: This study aims to evaluate the efficacy of recombinant human GH (rhGH) therapy on final adult height in children w...

Background: In infants under 3 years of age acquired primary hypothyroidism caused by autoimmune thyroiditis is very rare. Hypothyroidism can manifest with different signs and symptoms and has a wide range of presentations from subclinical hypothyroidism to overt form.Objective and hypotheses: We describe a child with an unusual hypothyroidism presentation characterized by multi-organ involvement and related to acquired autoimmune thyroiditis during a ve...

Background: The N-acetyltransferase 2 (NAT2) A803G polymorphism leading to substitution of lysine to arginine at residue 268 and codifying for a cytosolic enzyme catalysing acetyl-CoA-dependent N- and O-acetylation reactions, has been associated with decreased insulin sensitivity in a large adult population with the A allele associated with insulin resistance (IR)-related traits.Objective and hypotheses: We screened for this polymorphism, for th...

Background: Studies examining vitamin D levels in association with childhood obesity usually do not concurrently measure levels of vitamin D-binding protein and do not calculate the unbound, bioavailable vitamin D, that is considered the fraction of 25-hydroxyvitamin D able to exert biological activity.Objective and hypotheses: To evaluate in a group of children for the most part obese i) the concentrations of both total 25-hydroxyvitamin D and of the bi...

Introduction: Prader-Willi Syndrome (PWS) is a complex hypothalamic disorder, causing hypotonia, intellectual disability (ID), pituitary hormone deficiencies and hyperphagia. Up to 4% of young patients with PWS die unexpectedly, every year. The mean age of reported deaths in PWS is 29.5 years; 20% of deaths even occur below age 18 years. Mortality data show that more than 50% of deaths are of cardio-pulmonary origin. Morbid obesity, diabetes and hypertension are strong risk fa...