ESPE Abstracts

Introduction: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by ACTH-resistant isolated cortisol deficiency. FGD usually presents with hypoglycemia, convulsions, prolonged jaundice, and marked skin hyperpigmentation in the early period of life. Several defects in MC2R, MRAP, MCM4, NNT, and TXNRD2 genes are related to FGD. In all these situations, plasma ACTH is high. By contrast, all reported cases of glucocorticoi...

Objectives: Among adverse effects of GH, a particular attention should be given to glucose homeostasis. The aim of the study was evaluate the effect of GH therapy on glucose homeostasis in children with GHD after 10 years of treatment.Methods: 30 patients (8 M/22 F, age 7.00 ± 2.61 years) with GHD at diagnosis and 30 healthy children comparable to patients for age, sex and BMI were enrolled. Glucose, insulin, HOMA-IR ...

Objective: to assess the prevalence of endocrinopathies in a pediatric population of Rett syndrome (RTT) patients.Design: retrospective observational double center study.Methods: 51 caucasian patients (47 girls, 4 boy) with genetically confirmed diagnosis of RTT were enrolled (mean age: 9.65±5.9 years, range: 1-18 years). The patients were referred from the Rett Center of two It...

Introduction: Obstructive sleep apnea (OSA) affects up to 40% of children and adolescents with obesity and the risk for OSA is directly correlated with obesity severity. Several studies have pointed out that OSA per se might lead to metabolic derangement including worsening of insulin resistance, hyperglycemia, and hepatic steatosis. However, the pathophysiologic mechanisms underpinning these associations remain unclear, especially in pediatric groups. The mai...

The initial priority of newborn screening (NBS) for congenital hypothyroidism (CH) should be the detection of the primary forms (prevalence: 1:2000-3000), characterized by elevated TSH and reduced FT4 values. When financial resources are available, guidelines recommend adding measurement of T4 or FT4 to screen for central CH (CeCH), characterized by reduced T4/FT4 and reduced, normal or inadequately elevated TSH. Most NBS programs for CH are based on TSH measurement only, ther...

Background: MADaM syndrome associated with MTX2 gene, is a very rare premature-aging syndrome, caused by a homozygous mutation in the MTX2 gene, which encodes for metaxin-2, a mitochondrial outer membrane protein involved in protein translocation into mitochondria and in TNF-a- induced apoptosis.Case report: Term male newborn, due to a physiological pregnancy [birth weight 4230 g (1.61 SD), length 56 cm (3.24 SD), head c...

Achieving adequate glycaemic control in children with type 1 diabetes (T1D) is essential to reduce incidence and progression of microvascular and macrovascular complications. However, factors that influence glycaemic control remain to be understood. The present study aimed to evaluate clinical, personal, genetic and eating behaviour characteristics underlying glycaemic control in T1D. 325 T1D individuals aged 6 and 20 years and with at least 1 year of disease duration have bee...

Background: The patatin-like phospholipase domain-containing protein 3 (PNPLA3) I148M and the transmembrane 6 superfamily member 2 (TM6SF2) E167K polymorphisms have been recognized as the major risk polymorphisms for Non-Alcoholic Fatty Liver Disease (NAFLD). Data supported a close relationship of NAFLD with thyroid function both in adults and children. To investigate the influence of NAFLD and of its genetics on thyroid function.<p class...

Purpose: Leptin plays a key role in the regulation of body weight and other endocrine systems. Recently, impairment of leptin gene transcription due to genetic variations in a long-noncoding RNA, also referred as lncOb, has been described in mice. In humans, a correspondent polymorphism (rs10487505) has been associated with relatively low plasmatic leptin levels compared to obesity severity and with early obesity onset.Objectives...

Silver-Russell syndrome (SRS) is a rare heterogeneous syndrome associated with severe prenatal and postnatal growth retardation.Context: There is little information on puberty onset and bone age trend in children with SRS.Study Design and partecipants: Retrospective observational study, including patients with a confirmed diagnosis of SRS divided in 2 molecular groups [ 11p15 loss of methylation, (...