hrp0089p2-p274 | Growth & Syndromes P2 | ESPE2018

KBG Syndrome: Our Experience and Unreported Clinical Features

Scarano Emanuela , Tassone Martina , Tamburrino Federica , Graziano Claudio , Perri Annamaria , Stefanelli Francesca , Vestrucci Benedetta , Mazzanti Laura

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...

hrp0089p3-p231 | Growth & Syndromes P3 | ESPE2018

A Long Follow-up in a Young Patient with Atypical Progeroid Syndrome

Scarano Emanuela , Tamburrino Federica , Lattanzi Giovanna , Perri Annamaria , Elena Presicce Maria , Mazzanti Laura

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...

hrp0086p2-p854 | Syndromes: Mechanisms and Management P2 | ESPE2016

Growth Pattern, Response to GH Treatment and the Effects of Pubertal Spurt on Final Height in Patients Affected by RASopathies

Tamburrino Federica , Scarano Emanuela , Perri Annamaria , Casto Celeste , Maltoni Giulio , Mazzanti Laura

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...

hrp0086p2-p868 | Syndromes: Mechanisms and Management P2 | ESPE2016

Pubertal Development and Final Height in Some Rare Genetic Diseases

Mazzanti Laura , Casto Celeste , Tamburrino Federica , Perri Annamaria , Guidetti Monica , Emanuela Scarano

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...

hrp0082p1-d1-59 | Diabetes | ESPE2014

A Randomized, Crossover Pilot Study Comparing Glycemic Control and Satisfaction with an Indwelling Catheter (I-PORT Advance) for Insulin Administration in Children and Adolescents with Type 1 Diabetes on Basal-Bolus Treatment

Maltoni Giulio , Martini Anna Lisa , Rollo Alessandra , Perri Annamaria , Zucchini Stefano

Background: Intensive insulin treatment allows a good metabolic control and prevents long-term complications. Basal-bolus regimen is the best treatment for children with type 1 diabetes T1D but requires several insulin injections a day. The needle-fear and discomfort felt by the child and parents/caregivers for insulin administration is one of the main obstacle to good compliance.Objective and hypotheses: To compare glycemic control and satisfaction with...

hrp0082p3-d3-794 | Fat Metabolism & Obesity (2) | ESPE2014

Prader–Willi Syndrome: Reports of Two Patients with Congenital Abnormalities of Kidney and Urinary Tract

Tamburrino Federica , Scarano Emanuela , Mencarelli Francesca , Perri Annamaria , Colangiulo Angela , Siroli Benedetta , Martini Anna Lisa , Mazzanti Laura

Background: Prader–willi syndrome (PWS) is characterized by decreased fetal activity, obesity, muscular hypotonia, MR, short stature, hypogonadism and small hands and feet. Little information is available concerning PWS and kidney involvement.Objective and hypotheses: We report two patients with PWS and congenital abnormalities of kidney and urinary tract (CAKUT).Method: First case: male, born at 35 weeks with caesarian sectio...

hrp0095p1-325 | Growth and Syndromes | ESPE2022

ERF mutation in a patient with Noonan-like phenotype, type 1 diabetes mellitus and epilepsy

Schiavariello Concetta , Tamburrino Federica , Piazza Francesca , Perri Annamaria , Maltoni Giulio , Rossi Cesare , Pession Andrea , Mazzanti Laura , Scarano Emanuela

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...

hrp0092p1-378 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Vascular Anomalies and Aortic Dilatation in Turner Syndrome Study in a Large Cohort of Young-Adult Patients

Scarano Emanuela , Varini Susanna , Tamburrino Federica , Perri Annamaria , Costa Margherita , Prandstraller Daniela , Lovato Luigi , Balducci Anna , Gibertoni Dino , Mazzanti Laura

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...

hrp0084p2-417 | GH & IGF | ESPE2015

GH Therapy in Skeletal Dysplasias: Final Height Data

Scarano Emanuela , Procopio Matteo , Tamburrino Federica , Perri Annamaria , Bettocchi Ilaria , Vestrucci Benedetta , Rollo Alessandra , Balsamo Antonio , Mazzanti Laura

Background: Skeletal dysplasias are characterised by bone-cartilage involvement and impairment of growth and body proportions. Reports of the benefits of GH treatment are difficult to evaluate for the small number of subjects, short period of treatment, few final height (FH) data in groups with and without GH deficiency (GHD).Objective and hypotheses: The aim of our study was to assess FH and body proportions in pts with skeletal dysplasia and GHD.<p...

hrp0092p2-182 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Auditory Phenotypes and Dynamics of Hearing Thresholds in 246 Turner Syndrome Females

Aversa Tommaso , Bruno Rocco , Santucci Simona , Messina Maria Francesca , Scarano Emanuela , Borrello Simona , Perri Annamaria , Costa Margherita , Casto Celeste , Alibrandi Angela , Mazzanti Laura , Wasniewska Malgorzata

Objectives: To describe the auditory phenotype and dynamics of hearing thresholds in patients with Turner Syndrome (TS).Patients and Methods: Cross-section study evaluating the hearing thresholds in 246 TS patients (age range 4-44 yrs). Patients were divided into three age groups: Group 1 (79 TS, age range 4.0-12.9 yrs); Group 2 (109 TS, age range 13.0-25.9 yrs,) and Group 3 (66 TS, age range 26.0-44.9 yrs,). Pure tone a...