ESPE Abstracts

Background: Childhood onset growth hormone deficiency (CO-GHD) may contribute to low bone mass and alterations of body composition. However, the mechanisms by which CO-GHD effects bone health are not yet clearly defined.Objective and hypotheses: To evaluate musculoskeletal health in CO-GHD subjects at initial evaluation and retesting after final height.Method: A cross-sectional study of assessing bone health and body composition by...

Background: Genetic diversity of mutations in the CYP21A2 gene is the main cause of the monogenic Congenital adrenal hyperplasia (CAH) disorder. On chromosome 6p23.1, the CYP21A2 gene is partially overlapped by the TNXB gene and reside in tandem with their highly homologous corresponding pseudogenes (CYP21A1P and TNXA), which leads to recurrent homologous recombination.Methods and Results: The genetic s...

Abstract: Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn. Octreotide, a long-acting somatostatin analogue (SSA), is a second line treatment for diazoxide unresponsive CH patients. Although it has been found to be a safe and effective treatment, long-term benefits and side effects have not been thoroughly evaluated. Furthermore, some authors have emphasized that exocrine pancreatic insufficiency is a common ...

Background: Glucose monitoring is vital in children with persistent hypoglycaemia to reduce the risk of adverse neuro-behavioural outcomes1. Continuous glucose monitoring (CGM) systems provide real-time glucose levels however; information on its usefulness in monitoring glucose levels in this cohort is limited2, 3.Objective: To ascertain the effectiveness of CGM and to evaluate parents’ experie...

Background: FSH stimulates ovarian follicle maturation and estradiol synthesis which is responsible for breast development. Age at pubertal onset varies substantially among healthy girls. Although more than half of the variation is heritable, only a small part has been attributed to specific genetic polymorphisms identified so far.Objective and Hypotheses: We assessed the effect on pubertal onset of three genetic polymorphisms affecting FSH action.<p...

Background: Pubertal gynaecomastia is thought to be a clinical sign of an oestrogen-androgen imbalance, affecting up to 60% of boys. In most cases no underlying endocrinopathy can be identified. In boys, Anti-müllerian hormone (AMH) is produced by immature Sertoli cells and circulating level decreases as testosterone increases during pubertal maturation. In a previous cross sectional study we found significant lower levels of AMH in boys with pubertal gynaecomastia (Mieri...

Background: Anti-Müllerian hormone (AMH) is produced by small growing ovarian follicles. It inhibits both FSH induced maturation of follicles as well as aromatase activity. Genetic variation of AMH signalling is associated with age at menopause and circulating oestradiol levels, i.e. AMH rs10407022 T>G (intragenic) and AMHR2 rs11170547 C>T (putative enhancer).Objective and hypotheses: This present study aims to investigate ...

Background/Aims: Short stature is a common reason for presentation to paediatric endocrinology clinics. Getting to a diagnosis of short stature is a multi-step, complex process of tests that only in a few cases save a diagnosis. As genetic plays a strong role in height, we sought to identify known and novel genetic causes of short stature.Methods: We recruited 18 children with severe short stature, we conducted whole exo...

Introduction: About 25% of children and adolescents with Type 1 Diabetes (T1D) have one or more associated autoimmune conditions. Although Graves' disease (GD) rarely occurs, considering the potential severity of manifestations, an early diagnosis and appropriate treatment are essential. The first line treatment is methimazole, whose use is not free from side effects; therefore, it is important to start with the most appropriate dosage.<p class="abste...

Background: Hypercalcaemia in infants may reach extreme levels due to hyperparathyroidism, subcutaneous fat necrosis, or vitamin D intoxication. Normal values for p-parathyroid hormone and p-calcitriol prompt search for other causes.Methods: Hospital file evaluation, case report.Results: A 5½-months-old Caucasian girl of non-consanguineous healthy parents was referred due to w...