ESPE Abstracts

Keywords: Short stature, Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome, genetic syndromesIntroduction: Short stature is one of the major components of dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. At present, GH therapy is used in most syndromic disorders, al...

Background: IGF1 and IGF2 are major regulators of somatic growth acting mainly through the IGF1R. Variants in IGF1 and in IGF1R were identified to cause intrauterine and postnatal growth retardation but variants in IGF2 have not yet been reported.Method: In a multigenerational family four affected members (two siblings, one first degree cousin and the daughter of one sibling) exhibited severe growth retardation with heights between −4.2 and −...

Parental imprinting is an epigenetic process leading to monoallelic expression of certain genes depending on their parental origin. Imprinting disorders are a set of rare diseases that mainly affect growth and metabolism from birth to adulthood. These disorders are mainly due to methylation defects in imprinting control region that drive the abnormal expression of imprinted genes. Moreover, patients with imprinting disorders may present overlapping clinical features that can b...

Introduction: Linear growth is a complex process involving the interplay of genetic, epigenetic, and environmental factors. Current knowledge sheds importance to the GH-IGF-1 axis, chondrocyte regulation and extra-cellular matrix in the growth plate, and other fundamental intracellular processes. Despite these advancements, the genetics of short stature are not fully understood. This study aims to contribute by investigating a unique cohort of children from co...

Keywords: growth hormone, small for gestational age, genetic defects; Silver-Russell syndrome; growth hormone deficiencyObjectives: To evaluate the influencing factors of GH treatment in Chinese short stature children born SGA.Methods: This was a single-center, retrospective, cross-sectional survey in China. Of 101 patients were identified born SGA and 66 short stature children bor...

Background: Non-idiopathic central precocious puberty (CPP) is caused by acquired or congenital hypothalamic lesions visible on magnetic resonance imaging (MRI), or associated with various complex genetic and/or syndromic disorders without visible lesions on MRI. We investigated the different types and prevalences of non-isolated CPP phenotypes in a large group of consecutive patients with CPP.Methods: This observational cohort study included all patient...

Recombinant human growth hormone (rhGH) is approved for short stature associated with growth hormone deficiency (GHD), idiopathic short stature (ISS), Turner syndrome (TS), multiple pituitary hormone deficiencies (MPHD), Silver Russell syndrome (SRS) and being born small for gestational age non syndromic (SGA). Objectives: To assess the clinical effectiveness and cost-effectiveness of rhGH in children with GHD, TS and those born SGA. Methods: ...

Background: GH insensitivity (GHI) encompasses growth failure, low serum IGF-1 and normal/elevated serum growth hormone (GH) (basal level >5 μg/L and/or peak on provocation testing >10 μg/L). In a significant number of children the molecular cause is unknown.Objective: To investigate the genetic etiology of GHI in a cohort of children by candidate gene (CGS) and whole exome (WES) sequencing.Methods: About 109 pati...

Background: Many studies have shown that GH therapy can increase final height in children born SGA. Adult height and growth velocity can be improved in these subjects even if there is not a deficiency of endogenous GH (GHD).Objective and hypotheses: We aimed to analyze growth response after 1 year of GH treatment in children born SGA without GH deficiency.Method: Ten patients (six M, four F) born SGA (according to Gagliardi et ...

Background: Diencephalic syndrome (DS), diencephalic cachexia or Russell syndrome, is a rare, rapidly fatal condition, usually occurring during the first year of life, as a result of a hypothalamic dysfunction due to hypothalamic/chiasmatic tumors. Clinical features of DS are weight loss leading to cachexia despite a normal caloric intake and growth rate, hyperalertness, hyperkinesis, and euphoria. Treatment is related to treatment of the hypothalamic lesion. The role of cytok...