ESPE Abstracts

Papillary thyroid cancer (PTC) is the most common thyroid tumor in childhood and adolescence. Most of these patients are referred with locally advanced and/or distant disease at the moment of diagnosis. Whenever is possible, these patients should be offered a total thyroidectomy and radioiodine remnant ablation. However, this approach is not always possible to perform, becoming these tumors as unresectable. These critical cases could benefit from the neoadjuvant treatment with...

Insulinoma is a rare neuroendocrine tumor, usually benign, but can be life-threatening in causing hypoglycemic accidents. It presents in individuals aged between 8 and 82 years and can occur sporadically or constitute a part of multiple endocrine neoplasia type 1 (MEN-1).The nonspecific-symptoms and small size of these tumors led to difficulties of diagnosis and localization.Here we describe the case of a 11-year-old boy, who came to our attention for a ...

A 11years-old Italian severely obese prepubertal female (BMI: 32.4 kg/m2; SDS-BMI: 2.63) was admitted to the emergency department due to worsening dyspnea and chest pain associated with severe polyuria, lethargy and lost weight from (85 kg to 78 kg in 7 days). She has history of severe hypertension treated with amlodipine and bisoprololo and a positive family history of Type 2 diabetes. At admission, she was dehydrated and lethargic, but can be awakened after painful and verba...

Introduction: Prader-Willi Syndrome (PWS) is a complex hypothalamic disorder, causing hypotonia, intellectual disability (ID), pituitary hormone deficiencies and hyperphagia. Up to 4% of young patients with PWS die unexpectedly, every year. The mean age of reported deaths in PWS is 29.5 years; 20% of deaths even occur below age 18 years. Mortality data show that more than 50% of deaths are of cardio-pulmonary origin. Morbid obesity, diabetes and hypertension are strong risk fa...

Introduction: Vitamin D deficiency in children is still a global health problem. Measuring free 25-hydroxyvitamin D concentrations could provide a better estimate of the vitamin D status than total 25-hydroxyvitamin D (25(OH)D) levels.Objective: To assess the relationship between measured free vitamin D (m-f25(OH)D) and calculated free 25(OH)D (c-f25(OH)D), total 25(OH)D, intact parathyroid hormone (iPTH) and other markers of phosphocalcic metabolism. Es...

Objective: Acute adrenal crisis is one of the main concerns in children with classic congenital adrenal hyperplasia (CAH). The aim of this study was to evaluate hypoglycemic and salt-wasting episodes in children with an established diagnosis of classic 21-hydroxylase deficiency (21-OHD) after start of treatment.Methods: A retrospective observational study was conducted for 85 patients with classic CAH (68 salt-wasting and 17 simple virilizing), aged 1 to...

Background: X-linked Congenital Adrenal Hypoplasia (AHC) is a rare cause of primary adrenal insufficiency due to mutations in NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1. Adrenal insufficiency usually presents in the first two months of life, but sometimes can appear later in childhood. Hypogonadotropic Hypogonadism is often associated later in life and all patients develop azoospermia. We describe an unusual onset of AHC started with ...

Background: Development of cystic fibrosis–related diabetes (CFRD) is associated with worse pulmonary function, poorer nutritional status, more chest infections and increased mortality. In cystic fibrosis (CF) patients, abnormality of the 1 hour glucose during Glucose Tolerance test (GTT) is reported to be a better predictor of early CFRD and is associated with decline in pulmonary function compared to the 2-hour glucose level during GTT. We report a case series of 4 pati...

Introduction: Term newborns Small for Gestational Age (SGA) have an increased risk for minor neurological impairment at pre- and school age. The general movements (GMs) assessment, in particular at Fidgety (F+) age, has been increasingly used to predict neurological dysfunctions. Aim of our study was to evaluate, in a population of term newborn SGA (gestational age >37 weeks) the growth recovery, the presence of F+ at 3 months of age, and the neurological outcome at 2 year...

Introduction: Short stature is frequently associated to neurofibromatosis (NF). In these patients this condition is often caused by growth hormone (GH) deficiency. We describe four boys affected by NF type 1 and GH deficiency treated with GH replacement therapy.Case report: GH deficiency was diagnosed in four patients with NF type 1, who were referred to our Pediatric Endocrinology Unit for short stature. Patient 1 started GH replacement therapy at the C...