ESPE Abstracts

Brother 1: 7 years old boy, with right genu valgum and short stature (−2,11 DS); X ray shows rickets features. Plasmatic Calcium 9.3 mg/dl; phosphate 2.5 mg/dl; Alkaline phosphatasas 460 U/l; Parathyroid hormone 83 pg/ml; 25OH Vitamin D 24 ng/ml. Urine calcium 159 mg/24 h (9.2 mg/K per day); Urine phosphate 870 mg/24 h; TmP/GFR 2.6 (NV:3.8 −5.0); proteinuria 100 mg/dl.Brother 2: 4 y.o boy with frequent respiratory diseases in infant period. G...

Background: Gonadotropin releasing hormone analogs (GnRHa) are effective in improving adult height in children with precocious onset of puberty, rapid progression, and good growth potential. In last years, however, some transient metabolic complications have been described during the treatment without the reassurance of long-term data yet. The aim of our study is to clarify if body mass index (BMI) at diagnosis of idiopathic central precocious puberty (iCPP) c...

Purpose: The main purpose of the study is to assess the association between obstructive sleep apnea (OSA) and insulin secretion in children with obesity.Objectives: To achieve our aim we have assessed OSA and measured insulin secretion by the using the oral minimal model (OMM) in a cohort of 77 obese children and adolescents.Methods: We retrospectively enrolled children and adolesc...

ERF protein is a major binding target of ERK1/2 kinases, key effectors of the RAS–MEK–ERK signaling cascade. ERF has a role as a negative transcriptional regulator of RAS/MAPK mitogenic pathway (1) and, in theory, a loss-of-function mutation (LOF) in ERF could cause a Rasopathy phenotype. To date, LOF variants of ERF have been reported in 45 individuals with craniosynostosis but without a Noonan-like phenotype. There is only one case report describing a patient wit...

Background: Carney complex (CNC) is a rare autosomal dominant multiple endocrine neoplasia and lentiginosis syndrome, characterized by abnormal cutaneous and mucosal pigmentation, myxomas of the heart, skin, breast and other non-endocrine tumors. CNC is principally caused by loss-of-function mutations of PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Cushing’s syndrome is a rare disorder in...

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...

Background/Objectives: Type 1 diabetes (T1D) is an important risk factor for cardiovascular disease (CVD). Even if CVD become mainly manifest in adulthood, the process of atherosclerosis starts in childhood. Ultrasound is a reliable and noninvasive method for detecting early structural and functional atherosclerotic changes in arterial wall and heart. Aim of this study was to determine early ultrasound signs of atherosclerosis and of left ventricular (LV) syst...

Background: Endothelial dysfunction is a macrovascular complication of type 1 diabetes. Children and adolescents with type 1 diabetes may suffer of endothelial dysfunction, irrespective of chronological age and disease duration.Objective and hypotheses: After evaluating the prevalence of early endothelial dysfunction, as measured by mean of reactive hyperaemia in adolescents with type 1 diabetes, at baseline and after 1-year follow-up, we started a 6-mon...

Background: Prader–willi syndrome (PWS) is characterized by decreased fetal activity, obesity, muscular hypotonia, MR, short stature, hypogonadism and small hands and feet. Little information is available concerning PWS and kidney involvement.Objective and hypotheses: We report two patients with PWS and congenital abnormalities of kidney and urinary tract (CAKUT).Method: First case: male, born at 35 weeks with caesarian sectio...

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...