ESPE Abstracts

Background: The GH/IGF-I axis is involved in metabolic control and studies suggest that IGF-I deficiency and subsequent changes in IGF-I signaling in brown adipose tissue (BAT) modifies its thermogenic capacity. Food restriction reduces thermogenic capacity in BAT, while leptin stimulates thermogenesis through uncoupling protein 1 (UCP-1) induction. Leptin and IGF-I maintain important crosstalk in different tissues, but whether these two hormones interact to r...

Background: in general population Hurthle cell cancer (HCC) accounts for 3-7% of all differentiated thyroid cancers (TC) with a more aggressive course, while its relative prevalence and behavior in childhood is uncertain due to the lack of specific literature reviews.Objective: to describe the largest pediatric HCC cohort to date reported and to estimate its relative prevalence among TC variants in childhood.<p c...

Background: In North-Eastern Italy, a newborn screening for congenital adrenal hyperlpasia (CAH) has been taking place since 2001 to diagnose the classical form of 21-hydroxylase deficiency (21-OHD). Thanks to the screening program based on 17-OHP levels in dried blood spots, early diagnosis of CAH is possible, allowing appropriate precocious treatment and reducing mortality rates. Unfortunately, a high false positive rate, especially in preterm, low-birth-wei...

Introduction: In children with classical congenital adrenal hyperplasia(CCAH) linear growth allows monitoring metabolic control. Precocious puberty could compromise their growth. There are few studies in patients with CCAH diagnosed by neonatal screening(NS) about this subject.Aims: To analyze linear growth and precocious puberty in children with CCAH detected by NS.Method: Thirty-...

Background: Preterm infants born VLBW can display auxological impairment and long term cognitive disabilities. These outcomes are influenced by the condition of being small for gestational age (SGA), but also by the extra-uterine growth restriction (EUGR). Aim of the study was to detect the influence of gestational age(GA), perinatal growth trend and enteral nutrition during the hospitalization on cognitive and auxological outcomes at peri-pubertal age (PPA).<...

Background: Hypospadias is one of the most common congenital abnormalities in male. Nowadays, hypospadias surgical repair has become highly demanding and deeply investigated with more than 300 corrective procedures. Its success is assessed by the "reoperation rate" that occurs short after the surgery within a brief follow-up (6-12 months). However, short-term outcomes may not reflect the long-term ones, as hypospadias repair may influence adolescence a...

LHX3, a member of the LIM-homeodomain transcription factors family, regulates pituitary development in vertebrates and the maintenance of mature anterior pituitary cells. Nineteen mutations in LHX3 gene have been reported in HGMD database, in homozygous and compound heterozygous patients. The phenotype may present with pituitary dysfunction only or with syndromes involving also nervous and skeletal systems. The MRI images include aplasia or hypoplasia of pitui...

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...