hrp0092p3-287 | Late Breaking Abstracts | ESPE2019

Should Wereviewclinical Criteria to Diagnose SHOX Gene Mutations?

Gallo Francesco , Lonero Antonella , Moramarco Fulvio

The mutation of the SHOX gene is a cause of short stature by varying frequency depending on the published work, but estimated at around 3-10 % of cases of short stature. The main diagnostic scheme for starting genetic testing is the Rappold score, which requires clinical and radiological criteria, under which this form of short stature is framed as a disharmonious. In our clinical experience, however, we also looked for mutations in the SHOX gene in patients with signs of ...

hrp0089p3-p135 | Fat, Metabolism and Obesity P3 | ESPE2018

Cut-off for the Follow-up of Obese Children: Cynicism or Realism?

Gallo Francesco , De Quarto Giuditta , Lonero Antonella , Moramarco Fulvio

The majority of treated obese children fail the goals set in the medium-long term or do not show themselves up at the short term follow up. These results, which do not improve even with the proliferation of facilities aimed to the treatment of obesity and of its complications, pose serious questions on how to make the best use of scarce resources available by the National health system. We have visited, between 2013 and 2015, 378 seriously obese children (>2 DS from nation...

hrp0086p2-p714 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Autoimmune Hypoparathyroidism and Celiac Disease: A Rare Paediatric Association Outside an Autoimmune Polyglandular Syndrome

Gallo Francesco , Simeone Giovanni , Conte Pietro , La Torre Francesco , Moramarco Fulvio

Background: The association between primary hypoparathyroidism and celiac disease (CD) is uncommon in paediatrics, even more if they are not part of an autoimmune polyglandular syndrome (APS, almost exclusively type II). We describe a case of autoimmune hypoparathyroidism coexisting with celiac malabsorption.Objective and hypotheses: Valentina was a 7 year old female child when she was admitted in hospital because she had generalized seizures at home. Sh...

hrp0082p1-d1-242 | Thyroid | ESPE2014

Congenital Hypothyroidism and Tuberous Sclerosis: an Association or a Coincidence?

Gallo Francesco , Conte Pietro , Alfano Rosa Maria , Bulfamante Gaetano , Moramarco Fulvio

Background: Tuberous sclerosis (TS) is a polymorphic, dominantly inherited syndrome caused by an inactivating mutation in tumor suppressor genes, TSC1 or TSC2; they regulate mammalian target of rapamycin (mTOR), a key player in control of cellular growth and protein synthesis. The disease involves benign tumors in several distinct organs (such as the skin, kidneys, heart, and CNS), that can interfere with organ function. Rarely TS is associated with endocrine abnormalities, an...

hrp0084p3-695 | Diabetes | ESPE2015

Intraosseous Infusion: Sometimes the Only Way to Treat Severe Diabetic Ketoacidosis

Gallo Francesco , Conte Pietro , La Torre Francesco , Calo Maria Alba , Moramarco Fulvio

Background: The diabetic ketoacidosis (DKA) represents one of the most frequent causes of death in childhood. The first therapeutic step is a quick rehydration, whereby a venous access must be ensured in every child with DKA, in order to infuse liquids immediately. The children conditions (state of shock, obesity) can make access extremely difficult. We present two cases of patients with severe DKA, where finding a venous access was almost impossible.Cli...