ESPE Abstracts

Background and Aim: The relationship between T1DM and autoimmune thyreopathies is known and described, but the relationship between thyreopathies and other type of diabetes is not sufficiently clarified in pediatric age. The aim of our study was to assess the prevalence of autoimmune thyroid diseases (ATD) in children and adolescents with maturity onset diabetes of the young (MODY) in comparison with patients with T1DM and control group....

Background:Mutations of insulin receptor gene (INSR) lead to a wide spectrum of inherited insulin resistance syndromes. Type A insulin resistance is one of the these syndromes which is inherited autosomal dominant and leads to mild clinical symptoms after puberty.Objective and Hypothesis: To report a novel mutation of INSR gene mutation in a case of Type A insulin resistance who presented with transient neonatal diabetes...

A female child born from non consanguineous parents of Pakistani origin presented with congenital heart anomaly at prenatal ultrasound and confirmed at birth, with type B aortic arch interruption, right-sided aortic arch, wide ventricular and atrium septum defects, which required repeated surgical corrections during the first 9 months of life. The ultrasound also reported absence of the thymus. Suspecting Di Deorge Syndrome, a fluorescent in situ hybridization (FISH) ...

Introduction: Short stature is frequently associated to neurofibromatosis (NF). In these patients this condition is often caused by growth hormone (GH) deficiency. We describe four boys affected by NF type 1 and GH deficiency treated with GH replacement therapy.Case report: GH deficiency was diagnosed in four patients with NF type 1, who were referred to our Pediatric Endocrinology Unit for short stature. Patient 1 started GH replacement therapy at the C...

KBG syndrome (OMIM 148050) is a an emerging autosomal dominant disorder caused by heterozygous mutations in the ANKRD11 gene or deletions of 16q24.3, characterized by developmental delay, short stature, dysmorphic facial features and skeletal anomalies. Patients and methods: We report 22 patients with dysmorphic features, learning disabilities, behavior problems and macrodontia, where a clinical diagnosis of KBG was suspected. An ANKRD11 defect was confirmed in 12 patients. In...

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...

Introduction: Kabuki syndrome (KS) is a rare genetic disorder (1 in 32,000 newborns) caused by mutations in the KMT2D gene (autosomal dominant pattern) or the KDM6A gene (X-linked dominant inheritance). KS is characterized by distinctive facial features including arched eyebrows, long eyelashes, long palpebral fissures with everted lower lids at the outside edges, flat, broadened tip of the nose and large protruding earlobes. The name of this disorder comes from the resemblanc...

Introduction: The oto-spondylo-megaepiphyseal dysplasia (OSMED) is a rare condition with autosomal recessive inheritance caused by congenital defect in the formation of cartilage collagen. OSMED is caused by mutations in the COL11A2 gene, which encodes the alpha2 chain of XI type collagen, a complex molecule that gives structure and strength to the connective tissues that support the body’s joints and organs. OSMED is characterized by severe sensorineural hearing loss and...

Introduction: Klippel-Feil Syndrome (KFS), prevalence of 1:40000, is characterized by congenital fusion of cervical vertebrae; three major features are short neck, low hairline at the back of the head and a limited range of motion in the neck. The phenotypic expression is variable, presenting with other vertebral abnormalities (congenital high scapula, scoliosis, kyphosis, spina bifida, hemivertebrae) or extra skeletal symptoms such us deafness, renal, heart or neurological ab...

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...