ESPE Abstracts

The LMNA gene encodes lamin A/C, intermediate filament proteins associated with the inner nuclear membrane. Mutations in LMNA gene cause a wide range of human diseases sometimes called ‘laminopathies’ that affect different organ systems depending upon the mutation. Most laminopathies involve tissue of mesenchymal origins, resulting in such features as cardiac disorders and/or muscular dystrophy, lipodystrophy or progeroid syndromes. The group of progeroid syndromes i...

Background: Growth hormone (GH) has been shown to reduce insulin sensitivity in Turner girls, however a compensatory increase of insulin secretion by pancreatic beta cells usually occurs, probably stimulated by GH itself. Oral disposition index (ODI) express the capacity of beta cells to adapt to insulin sensitivity.Objective and hypotheses: To study longitudinally the insulin sensitivity (HOMA-S), the insulin secretion (IGI) and the ODI in a group of gi...

Background: Reduced growth is a common feature in RASopathies. Poor data are available about pubertal spurt and the effect on final height (FH) in patients with these disorders.Objective and hypotheses: To study growth, body proportions, pubertal pattern, and FH including subject treated with GH-therapy for proven GH deficiency.Method: We analized growth trend and body proportions in 88 patients affected by RASopathies with molecul...

Background: Pubertal growth, age of puberty onset and pubertal spurt duration are correlated to final height (FH). Few data are available in subjects with rare genetic syndromes.Objective and hypotheses: To evaluate pubertal pattern and its influence on FH in subjects with different genetic syndromes including the effect of GH-therapy for GH deficiency (GHD) and GnRH analogs for precocious puberty (PP).Method: We studied for growth...

Background: Distal monosomy 10q is a rare chromosomal anomaly characterized by unusually slow growth before and after birth, mild to severe intellectual disability and distinctive craniofacial features (hypertelorism, strabismus, a prominent or broad nasal bridge, and posteriorly rotated low-set ears). Some other anomalies have been described in various systems. The behavioral profile was characterized by marked inattention, hyperactivity and impulsivity. In recent years, subt...

Background: GH has been shown to influence glucose homeostasis through a negative effect on insulin sensitivity followed by a compensatory increase of insulin secretion. However it has been recently reported, in animals and in humans, that GH might stimulate insulin secretion also through a direct effect on the growth and on the function of the pancreatic β cell.Objective and hypotheses: To study longitudinally the insulin sensitivity (HOMA-S), the ...

We describe a 5 years-old patient referred to our centre for dysmorphic features and delayed psychomotor development. Negative family history, second child, full-term birth, eutocic delivery, regular growth parameters at birth and neonatal adaptation. Autonomous walking at 20 months with clumsiness; first words at 2 years with dysarthria and dysphagia. Brain MRI and array-CGH were normal. At the neurological examination: perioral hypotonia, sialorrhea, praxic difficulties. At ...

ERF protein is a major binding target of ERK1/2 kinases, key effectors of the RAS–MEK–ERK signaling cascade. ERF has a role as a negative transcriptional regulator of RAS/MAPK mitogenic pathway (1) and, in theory, a loss-of-function mutation (LOF) in ERF could cause a Rasopathy phenotype. To date, LOF variants of ERF have been reported in 45 individuals with craniosynostosis but without a Noonan-like phenotype. There is only one case report describing a patient wit...

Background: Patients with Turner Syndrome (TS) are at high risk for congenital heart disease (CHD), aortic dilatation and dissection with increased mortality and morbidity. Thoracic gadolinium-enhanced MRI angiography allows clear imaging of all great vessels and revealed a spectrum of silent vascular anomalies (VA), both venous and arterial, undetected at Echocardiography.The aim of this study is to retrospectively evaluate the prevalen...

Background: A high risk of congenital hypothyroidism (CH) has been documented in multiple pregnancies. Over the years special screening procedures for preterm and twin babies (re-screening at 2–4 weeks of life) have been adopted by many screening laboratories worldwide. However, no extensive studies have been performed to verify how many co-twins with negative test at first screening (3–5 days of life) become positive at re-screening, and the utility of a long-term f...