ESPE Abstracts

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 ...

XY, 14 years old, was born at term, birth weight 4900 g, length 54 cm. No problems reported in the early years of life. Due to recurrent abdominal pain for several years associated with dyspepsia, at 13 years he performed blood tests, with evidence of hypocalcemia (6.1 mg/dl) and hyperphosphatemia (8.6 mg/dl). For this reason, he was admitted to our ward: the weight was Kg 67.1 (1.8 SDS), height 168 cm (1.5 SDS), pubertal stage 4, objective examination in the norm. The exams p...

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...

Objective: This study aims to investigate the cause of cryptorchidism in a young boy.Case report: A 12 years old boy was admitted at our department for fever and lack of appetite. During physical examination, right cryptorchidism and subcoronal hypospadias were evident. Left testicle was in scrotum and it was of 4 ml in volume. In his past clinical history, he had many urological evaluations for the right testicle and sp...

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...

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...

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...

Introduction: The short stature homeobox-containing gene, SHOX, encodes a homeodomain transcription factor responsible for a significant proportion of long-bone growth. Growth impairment is a common manifestation in SHOX deficient patients (SHOXD), with variable degrees of height disablement. The growth promoter treatment of SHOXD patients consists in the administration of recombinant human GH (rhGH). In Italy, the allowed formulation of rhGH (somatropine, Hum...