hrp0089p3-p245 | Growth & Syndromes P3 | ESPE2018

Shox Haploinsufficiency in Short and Not Short Children: A Sigle Italian Cetre Data

Maggio Maria Cristina , Ragusa Saveria Sabrina , Miceli Roberto , Corsello Giovanni

SHOX haploinsufficiency (SHOX-D) is a cause of disharmonic short stature and a possible genetic cause of idiopathic short stature also in familial cases. We describe clinical, hormonal and genetic characteristics of patients with SHOX-D haploinsufficiency, followed and treated in the period 2014–2017, in a single Italian centre. The Rappold score was used to screen short children, to select those who needed a genetic analysis of SHOX gene by MLPA and sequencing. We select...

hrp0089p1-p064 | Diabetes & Insulin P1 | ESPE2018

Efficacy of Mecasermin Treatment and Long-Term Survival in a Child with Leprechaunism

Maggio Maria Cristina , Barbetti Fabrizio , Vitaliti Marcello , Ragusa Saveria Sabrina , Vitaliti Giuliana , Corsello Giovanni

Homozygous mutation of Insulin receptor (INS-R) gene cause an extremely rare disease called Leprechaunism, and induce intrauterine growth restriction with poor postnatal growth, hyperinsulinemia, postprandial hyperglycaemia, pre-prandial hypoglycaemia, typical facies, lack of subcutaneous fat, thick skin, hypertrichosis, macrogenitosomia in males. The survival is severely compromised in these patients. Treatment with diazoxide could ameliorate glycaemic control, however these ...

hrp0089p2-p408 | Thyroid P2 | ESPE2018

The Congenital Hypothyroidism Screening Programme in a Sigle Italian Centre: a 5-Years Retrospective Study

Maggio Maria Cristina , Ragusa Saveria Sabrina , Aronica Tommaso Silvano , Granata Orazia Maria , Gucciardino Eleonora , Corsello Giovanni

Congenital hypothyroidism (CH) occurs in approximately 1:2000–1:3000 newborns in Italy. Lowering of the TSH cut-off was the most important factor contributing to the increase of CH incidence in Italy. The aim of this study is the determination of the prevalence of CH in northwest Sicily, evaluated by the single screening centre of the Children Hospital ‘G. Di Cristina’, ARNAS, Palermo. From January 2013 to December 2017, 79.699 newborns were screened testing TSH...