ESPE Abstracts

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).<...

Aim of our study was to assess clinical characteristics and complementary studies, in patients who consulted the Endocrinology Department of our pediatric hospital, referred by pediatricians to discard precocious puberty.Methodology: it is a descriptive study based on review of medical records, with first consultation between 2010 and 2018. Criteria were developed to assign patients to one of six diagnostic categories based on age, growt...

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...

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...