ESPE Abstracts

Introduction: In human, the development of the embryonic gonads represents a complex process involving a large number of genes, some still unknown. Specific pathways have a crucial role for the normal ovarian development, the germ cell genomic stability and hormonal maintenance. These pathways’ dysregulation can lead to POF, clinically manifesting as the absence of pubertal onset and/or amenorrhea.Objective: To identify candidate genes responsible f...

The Ovotesticular Disorder of Sexual Development (OT DSD) is a rare condition characterized by histologic demonstration of both ovarian and testicular tissue in the same individual. Descriptions in literature usually have small samples and do not include patient evolution data. The aim of this study is to describe clinical, biochemical and histological findings, as well as long-term outcomes (including onset and progression of puberty) in patients with OT DSD, accompanied betw...

Background: Most studies examined immune/inflammatory parameters in type 1 diabetes mellitus (T1D) showing discrepant results and not yield definitive conclusions. A study carried out by our group in 2013 compared meta-immunologic profiles of three groups: high-risk children, newly diagnosed children affected by T1D and controls.Objective and hypotheses: To compare metabolic profile in three groups: children affected by T1D and an additional autoimmune d...

Background: Type 1 diabetes mellitus (DM1), a chronic metabolic disorder of autoimmune origin, has been associated with oxidative stress (OS), which plays a central role in the onset, progression and long-term complications of DM1. The markers of OS lipid peroxidation products, lipid hydroperoxides (LOOH), and also malondialdehyde (MDA) and thiobarbituric reactive substances (TBARS) that oxidatively modify proteins (Pr) (i.e., PrMDA and PrTBARS, respectively),...

Congenital Central Hypothyroidism (CeH) is a rare and heterogenous disease that can be part of a combined pituitary hormone deficit (CPHD) condition. The immunoglobulin superfamily member 1 (IGSF1) is the gene more frequently involved in these inherited forms and responsible for the so called X-linked IGSF1 deficiency syndrome, characterized by an estimated incidence of 1: 100.000. The main features are CeH, delayed/disharmonic pubertal development, macroorchidism, va...

Objective: The balance between hypocortisolism and hyperandrogenism in patients with classic congenital adrenal hyperplasia (CAH) treated with lifelong glucocorticoid (GC) is challenging. Glucocorticoid receptors are widely expressed in the brain; therefore it has been hypothesized that alterations in the exposure to glucocorticoids may affect cognitive ability in individuals with CAH. Only few studies have addressed this issue in children and results are scan...

Objective: The overarching hypothesis explored in this research was discerning the relations between the neuro-cognitive accomplishments of adolescents with T1D patients and healthy siblings of similar age, according to the transient glucose excursions, and the quantitative parameters of white matter in specific pathways according to glycaemic control.Research Design and Methods: A case-control study included 12-18 years...

Background: Heterozygous familial hypercholesterolemia (HeFH) is characterized by severely elevated low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease. European guidelines currently support the initiation of statin therapy by age 8-10 years in patients with HeFH to slow the progression of endothelial disfunction and to reduce the risk of cardiovascular disease in adulthood. However, to date, there is lack of data on adheren...

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...

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&#...