ESPE Abstracts

Objective: Linear growth is impaired in children with type 1 diabetes (T1D) and poor metabolic control. A good metabolic control is a key therapeutic goal to prevent vascular complications but also for ensuring an appropriate anthropometric development during childhood. In this study, we aimed to identify and characterize the effects of glycemic variability on linear growth in children with T1D.Methods: Data from 144 pre...

Background: DKA is the most serious life-threatening acute complication of T1D. Few data are available evaluating the possible role of anthropadiposity indexes in paediatric DKA in a selected population of prepubertal children. We aimed to identify the possible correlation between adiposity indexes and the presence and severity of DKA at T1D onset.Methods: 195 prepubertal children (84Female/111Male) diagnosed be...

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...

Background: Intrauterine growth restriction (IUGR) is associated with higher risk of cardiometabolic disease. Perturbation of endoplasmic reticulum (ER) homeostasis activates a set of ER-to-nucleus signaling pathways known as unfolded protein response (UPR). We previously showed that IUGR is associated with the activation of hepatic UPR and abnormal glucose profile in male Sprague-Dawley rats. Herein, we report the impact of IUGR on pancreas UPR in the same ex...

Background: IGF1 receptor (IGF1R) mutations are associated with pre- and post-natal growth retardation. We describe two monozygotic twins, one of them born small for gestational age (SGA), referred at the age 4 years and 2 months for short stature.Case presentation: The twins were born from non-consanguineous parents at 37-weeks gestational age by caesarean delivery. At birth: patient 1 had weight 2.076 kg (−2.4 SD...

Background: Congenital leptin deficiency is a rare cause of early-onset severe obesity. Clinical features of congenital leptin deficiency include early-onset severe obesity, marked hyperphagia, endocrine and metabolic alterations. Some patients have immune dysregulation.Case report: We describe two siblings from Libya referred for severe obesity. A boy (patient 1) referred at the age of 4 years and 3 months and a girl (p...

Introduction: Brain magnetic resonance imaging (MRI) is routinely performed to identify brain lesions in boys with central precocious puberty (CPP). In contrast to girls, in whom more than 90% of cases are idiopathic, it has been reported that 4 up to 75% of boys with CPP have pathological brain lesions.Aim: to evaluate the prevalence of brain lesions in males with isolated CPP and to identify potential clinical and bioc...

Background: Klinefelter syndrome (KS) is a genetic disorder consisting in a variable number of additional X chromosomes in a male individual. KS patients can rarely develop peripheral precocious puberty (PPP) caused by extragonadal germ cell cancers (eGCCs) producing hormones with androgenic activity. KS patients are at higher risk for eGCC when compared to the healthy populationCase report: We report the case of M., a 8...

Background: IGFR1 gene plays a crucial role in growth and glucose metabolism. IGF1R mutations account for approximately 10% of children born SGA with no catch-up growth. rhGH therapy has been reported moderately effective in stimulating growth of children with heterozygous IGF1R mutation. To date, no data are available about the efficacy of rhGH in patients with homozygous mutations.Case report: We describe a 4 years-old...

Background: Children born SGA are at risk of becoming short adults. Although most children born SGA show catch-up growth in the first 24 months of life, approximately 10% remain below the 3rd centile throughout childhood and adolescence. The available evidence shows that GH therapy can increase adult height in short children born SGA although long-term response is variable and closely related to the 1st year response.Aims:</stron...