ESPE Abstracts

Background: Thyroid dysgenesis has been considered a sporadic disease, but recent observations suggested a possible genetic basis.Objective and hypotheses: The aim of our report is to evaluate the incidence of hormonal and ultrasound thyroid anomalies in siblings of CH patients with thyroid dysgenesis.Method: In Emilia-Romagna Region (Italy) 328 CH infants were diagnosed by neonatal screening between January 2000 and December 2012....

Background: Patients who have received an hematopoietic stem cell transplantation (HSCT) have more risk of endocrine complications (hypothyroidism, hypogonadism, and growth retardation) but the incidence of diabetes after HSCT is not as well known. The pathogenesis of the diabetes is not well established, and is believed to be multifactorial: chemotherapy, pancreatic irradiation, inflammatory cascade and cytokines, steroids and predisposing genetic factors.<p class="abstex...

Background: Final height (FH) in patients (pts) with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is often under the genetic target, despite improvement of new therapeutic strategies.Objective and hypotheses: The aim of this study is to evaluate FH in a cohort of pts with CAH due to 21OHD diagnosed before and after newborn screening (NBS) era in Emilia-Romagna, Italy.Method: We evaluated final heigh...

Background: Skeletal dysplasias are characterised by bone-cartilage involvement and impairment of growth and body proportions. Reports of the benefits of GH treatment are difficult to evaluate for the small number of subjects, short period of treatment, few final height (FH) data in groups with and without GH deficiency (GHD).Objective and hypotheses: The aim of our study was to assess FH and body proportions in pts with skeletal dysplasia and GHD.<p...

Background: Several metabolic abnormalities, including unfavourable lipid profile, impaired cardiac performance, muscle strength and endurance capacity have been documented in GH Deficiency (GHD) adults. Alterations in cardiac morphology and left ventricular function and early markers of cardiovascular risk have been also detected in GHD children; however, no studies have so far investigated the effects of GHD on physical performance and right ventricular (RV) function in chil...

Background: Triglyceride (TG)/HDL ratio has recently been considered a index of cardio-metabolic risk in healthy and obese subjects. Diet, lifestyle indexes, anthropometric parameters, and metabolic control are the variables with possible influence on belonging to a certain cardio-metabolic risk group.Objective and hypotheses: To identify whether HbA1c per se has an influence on TG/HDL and to study other possible variables influencing the ratio....

Background: Neurocognitive retardation is one of the most important consequences that small for gestational age (SGA) children may suffer although conflicting results have been published.Objective and hypotheses: The aim of this study was to study psychomotor development (PD) in children born SGA during the first two years of life in order to identify children at risk as early as possible.Method: 108 cases borh SGA have been studie...

Introduction: Congenital hyperinsulinaemic hypoglycaemia of infancy (CHHI) associates with mutations in known genes in approximately 60% of cases. CHHI and mutations in HNF4A gene are reported in 0.5–2.4% in large series. A case of CHHI with renal Fanconi syndrome (FS) and hepatopathy is presented.Clinical description: Male newborn, gestational age: 38 weeks, weight: 4250 g +2.7 S.D., length: 55 cm +3.29 S.D., ...

Introduction: Developing an acute onset thyroid nodule is rare in children and usually associates with infectious or neoplastic disease; when linked to hyperthyroidism, the most likely diagnosis is toxic adenoma.Clinical description: 9-year-old boy with no relevant medical history was seen at the emergency department for acute cervical pain and tumor involving the left thyroid lobe with no inflammatory signs or history of trauma. Physical examination rev...

Introduction: Type 1 Narcolepsy is a rare pediatric condition characterized by central hypersomnia secondary to hypocretin deficiency. It can also involve the neuroendocrine axis, in particular determining obesity and central precocious puberty (CPP).Objectives: The primary aim of this study is the evaluation of endocrine and auxological aspects at diagnosis and during follow-up in children affected with T1N, in treatmen...