ESPE Abstracts

Background: Primary ovarian insufficiency (POI) affects 1% of women and is associated with significant medical consequences. In approximately 10% of cases, POI presents early with absent puberty or primary amenorrhoea. A genetic cause for POI can be found in up to 30% of women. Identified genes often relate to the complex biological processes occurring in fetal life which underpin normal ovary development and function in later adulthood.Objective: We aim...

Introduction: The human adrenal gland originates from the adrenogonadal primordium at around 4 weeks post conception (wpc) and undergoes marked developmental changes throughout the first half of pregnancy. Several key aspects of adrenal maturation are well-established, such as the formation of a large inner fetal zone (FZ) and synthesis of dehydroepiandrosterone, but many other processes contributing to adrenal gland development and function in humans are stil...

Background: Human IGF1 gene defects are characterized by intrauterine and postnatal growth retardation, sensorineural deafness, microcephaly and intellectual disability. Seven cases have been reported so far, and the underlying pathophysiology has been characterized in only three.Objective: To describe a patient with severe short stature presenting a novel homozygous IGF1 gene mutation and its underlying pathogenic mechanism.<p clas...

Background: Primary ovarian insufficiency (POI) is genetically mediated in up to 30% of cases. Many genes associated with POI have roles in early ovary developmental processes, including meiosis.Objectives: We investigated the genetic mechanism underlying early-onset POI in three young women presenting with absent puberty: two sisters from a consanguineous pedigree and a third unrelated proband.<st...

Introduction and aims: Obesity is often associated with elevated insulin levels and resistance to insulin action (IR). Insulin regulates the lipid metabolism. In overweight children, IR may well play a greater role than obesity in the development of lipid alterations. This study sought to ascertain whether there was any difference in lipid levels between obese and non-obese children, and to test for correlations between IR markers and BMI.Patients and me...

Backgroud: SarsCov2 infection began to spread worldwide since December 2019 and, on March 2020, the World Health Organization characterized its related disease, named COVID-19, as a pandemic. In Italy, to contain the spread of infection a severe lockdown from March 10th, 2020 to May 4th, 2020 was instituted. Other less severe restrictions were imposed in the winter 2020-2021 and in the spring 2021. The containment measures caused a series of consequences for t...

Introduction: Cryptorchidism has usually been managed using a surgical approach, with little attention to the underlying pathophysiology.Objectives: To assess gonadal function before treatment in prepubertal boys with cryptorchidism.Methods: In a cross-sectional study we reviewed all clinical charts of patients encoded with the diagnosis of cryptorchidism in the database of a paediatric tertiary hospital, between 2000 and 2017. Inc...

Background: Leprechaunism, due to a mutation of both alleles of insulin receptor gene, is a most severe and precociously life-threatening condition, difficult to treat.Objective and hypotheses: In leprechaunism rhIGF1 may replace insulin through I the insulin-like metabolic properties of its own receptor.Method: rh IGF1 was continuously subcutaneously administered through a.pump from the age of four months and adjusted according to...

Background: Treatment of pediatric obesity is challenging and especially the long-term outcome has been modest in many previous studies.Objective and hypotheses: We wanted to evaluate the efficacy of obesity treatment in specialist care and to find out factors, which have a major impact on the outcome.Methods: A total of 654 children (302 girls) aged 2–18 years treated for obesity between 2005 and 2012 in three specialist clin...

Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by a classic triad of optic nerve hypoplasia, agenesis of septum pellucidum and corpus callosum, and hypoplasia of the hypothalamic-pituitary axis. Up to date, a shared consensus is not available and the diagnosis relies mainly on clinical and neuroradiological findings. Even though few genes have been described as responsible for this syndrome, the precise causes of SOD remain unknown and a combination of...