ESPE Abstracts

Background: Hyperinsulinemic hypoglycemia is a heterogeneous condition characterized by inappropriate insulin secretion in the presence of low blood glucose levels. It can have various causes, including genetic, metabolic, syndromic, autoimmune, insulinoma, non-insulinoma pancreatogenous hypoglycemia or non-islet cell tumor hypoglycemia. On the other hand, oculofaciocardiodental syndrome is a rare X-linked dominant condition characterized by multiple congenita...

Background: POR deficiency is a rare form of congenital adrenal hyperplasia, transmitted in an autosomal recessive trait, that is characterized by ambiguous genitalia, impaired steroidogenesis and skeletal malformations similar to those of Antley-Bixler syndrome. It is caused by mutations in the P450 oxidoreductase gene (POR), an electron donor for all microsomal P450 enzymes including the three steroidogenic enzymes P450c 17 (17 alfa-hidroxylase /17,20 lyase)...

Case report: A 13-year old boy treated with rGH for short stature due to isolated GH deficiency was submitted in our clinic in June 2014 for regular follow-up. From his medical history we note that he was diagnosed with GH deficiency in 2009 (−4.5 S.D.) and started treatment with rGH 0.035 mg/kgc per day since February 2009. The physical exam showed H=149.9 cm (−0.74 S.D.), 39 kg, Tanner P3G3 and a subcutaneous left paravertebral tumou...

Pulmonary carcinoid tumors represent well-differentiated pulmonary neuroendocrine tumors, which include typical and atypical carcinoids. This type of lung tumors is rare, but represents the most common primary malignant lung tumor in children and adolescents, especially the typical carcinoids. They can be asymptomatic at the time of diagnosis or can present with nonspecific findings like recurrent pneumonia, cough, and hemoptysis. We report the case of a 15-year-old girl reffe...

Background: Hematopoietic stem cell transplantation (HSCT) recipients exhibit excess adiposity that may result in an increased metabolic risk. Studies have shown that BMI is a poor predictor of body fatness in pediatric HSCT survivors population where diminished lean mass has been documented. The visceral adiposity index (VAI) has recently been proposed as a predictor of cardio-metabolic risk in both adults and children. However, the predictive value of this i...

Background: Metabolic syndrome (MS) is a long-term complication of pediatric haematopoietic stem cell transplantation (HSCT) and it was described more often in patients who were exposed to total body irradiation (TBI). Since previous studies reported discrepancy in the presence of metabolic complications in HSCT survivors who underwent chemotherapy-only conditioning, we investigated the frequency of MS in our HSCT-treated children for various disorders without being exposed to...

Background: Autoimmune thyroid disease can be sometimes associated with autoimmune thrombocytopenia and decreased renal function.Case report: A 17-year-old female patient was referred to our endocrine department for evaluation of hypothyroidism (TSH=150 mcIU/ml, FT3=0 pg/ml, FT4<0.1 ng/dl) presenting severe fatigability and myalgia. From her medical history we mention that she was diagnosed with thrombocytopenia 1 year ago (85.000/mm...

Background: Childhood hematologic malignancies are no longer a death sentence. With survival rates significantly increasing, focus needs to shift towards diminishing long-term adverse effects, such as bone disorders. In childhood hematologic cancer survivors (CHCS), peak bone mass is not usually attained due to malginancy-related inflammation, treatments employed or subsequent endocrine complications. Thus, low BMD is frequent. However, in the absence of fragi...

Introduction: Papillary thyroid carcinoma (PTC) in the pediatric and young adult population presents contradictory features: it shows higher rates of multifocal disease, local and distant metastasis, and recurrence compared to adults, yet the overall 5-year survival rate remains exceptionally high at 98-100%. In children, RET/PTC rearrangements are the major somatic genetic alterations that drive the formation of PTC. On the other hand, mutations in <...

Background: Endocrine disturbances are the most prevalent complications in childhood cancer survivors (CSS), especially in those treated with cranial and cervical radiation for brain tumours, such as medulloblastoma. Recent data have shown frequent delays in the diagnosis and treatment of these complications that may lead to potential side-effects on general health. Apart from the well-known hypothalamic–pituitary and growth disorders observed in CSS, th...