ESPE Abstracts

Introduction: Autoimmune endocrinopathies are associated with Down syndrome (DS), especially in pubertal female patients. Coexistence of hyperthyroidism and insulin-dependent diabetes mellitus (IDDM) is very rare in patients with DS. But, the possibility of their occurrence emphasizes the importance of annual screening.Patient and methods: An 11-year-old girl with Trisomy 21 (DS), BMI=20,7 kg/m2 and BMI z scor...

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...

Background: Endogenous GH secretion physiologically increases during puberty. In particular, a correlation between GH levels and pubertal stages can be stated. Therefore, it is possible that some patients with childhood-onset GH deficiency (GHD) at puberty normalize their GH secretion. Finally, there are not so far assessed potential predictors of persistent GHD in patients during puberty.Objective and hypotheses: Our study aims evaluating the normalisat...

Background: The diagnosis of GH deficiency is challenged by the suboptimal accuracy of GH stimulation tests. Overnight GH sampling (OGS) may be useful in the diagnosis of growth disorders.Objectives: To establish if 1) the reduced number of spontaneous overnight GH profile peaks (SOGPP) is associated with hypothalamo-pituitary (H-P) abnormalities on MRI, 2) these children benefit from GH treatment....

Background: Disorders of sex development (DSD) are often due to disruption of the genetic programs that regulate gonad development. Some genes have been identified in these developmental pathways such as DAX-1, SOX-9, GATA-4 and others. The GATA-4 gene, located on chromosome 8p23.1, encodes GATA-binding protein 4 (GATA-4), a transcription factor that is essential for cardiac and gonadal development and sexual differentiation. Congenital heart disease (CHD) and...

Pseudohypoparathyroidism (PHP) is an hereditary disorder characterized by resistance to parathyroid hormone (PTH) and in varying degrees to TSH, GHRH and FSH/LH, and caused by loss-of-function mutations in the GNAS gene, encoding the membrane protein Gs-alpha. Pathognomonic of these patients is a dysmorphic phenotype, called Albright's Osteodystrophy, which includes short stature, obesity, round face, mental delay, subcutaneous ossifications and brachydactyly. The most fr...

Background: Recent studies have analyzed the influence of perfluoroalkylated substances – PFAS (in particular PFOS and PFOA) on people and thyroid. Children are primaly affected by these pollutants. On the other side variation of incidence of congenital hypothyroidism (CH) has been shown in recent years by different studies. We sought to determine whether the incidence of CH in north-eastern Italy has changed in relation to some endocrine disruptors and t...

Objective: Neonatal hyperthyroidism is a severe but generally transient condition with a 2% prevalence in offspring of mothers affected by Graves' disease. It is caused by the transplacental passage of maternal anti-thyrotropin receptor stimulant antibodies (TRABs). Here we report the cases diagnosed at our centre between 2015-2019 in order to re-evaluate the diagnostic and therapeutic approach to this challenging neonatal thyroid alteration.<p cla...

The patient was referred to our Centre for short stature. Weight and length at birth were within normal limits. In the neonatal period he showed jaundice and hypoglycemia. A reduced growth velocity was reported from the age of six months. At 15 months his length was 70 cm (−3.75 SDS), his weight 8.1 kg (−2.26 SDS). Parental target height was 167.6 cm (−1.38 SDS). He had normal psychomotor development. The examination showed macrocrania and nasal voice. Blood ...

Objectives: Preterm infants often present CH characterized by delayed TSH elevation. We describe the clinical and biochemical features and the evolution of CH in preterm infants with delayed TSH elevation, detected by the second screening for CH.Material and Methods: All preterm infants born between 2007 and 2014 negative to the first screening (b-TSH<10 mcU/ml) at 2–5 days of life and positive to the second screening at 12–33 days (b-TSH&#...