ESPE Abstracts

Objectives: 1. To describe the clinical, biochemical and testicular ultrasonographic features in a population of males with congenital adrenal hyperplasia (CAH) and Testicular Adrenal Rest Tumor (TART). 2. To identify factors related to the onset of TART. 3. To evaluate the therapeutic management and outcome of TART.Methods: Males with classic and non-classic 21β-hydroxylase-deficient CAH, diagnosed with TART, follo...

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...

The contiguous gene deletion syndrome, CAH-X, was reported in an 8.5% of Congenital Adrenal Hyperplasia (CAH) patients with a TNXA/TNXB chimera. This results in deletions of CYP21A2 gene, encoding 21-hydroxylase necessary for cortisol biosynthesis, and TNXB, encoding the extracellular matrix glycoprotein tenascin-X (TNX). There are three TNXA/TNXB chimeras (CH1, CH2, CH3) that differ in the junction site, resulting in TNXB haploinsu...

Background & Objective: Indigenous children in Canada have higher rates of obesity and type 2 diabetes mellitus (T2DM) and diabetes-related complications when compared to non-Indigenous children. Indigenous knowledge-based view of health encompasses a holistic approach with physical, mental, emotional, and spiritual health dimensions. This view of health will likely impact their engagement in interventions targeting obesity and T2DM. This systematic review...

Introduction: IPEX syndrome is a syndrome characterized by the following triad: immune dysregulation, polyendocrinopathy and X-linked enteropathy. It is produced by a variant in the FOXP3 gene. It is a rare disease with poor prognosis.Clinical case: We are reporting the case of a boy, 2nd child of non-consanguineous parents, normal pregnancy. Born at 39 weeks of gestational age, birth weight 2985 grams and length 49 cent...

Introduction: Hypoglycemia due to Congenital hyperinsulinism is a phenotypically heterogeneous disease. Depending on the cause it is most frequently seen in the neonatal period but it can present later in life, with risk of neurological complications in the event of late diagnoses.Clinical Case: Patient with a normal perinatal history, born at 40 weeks, weight 3600 grams and 50.5 centimeters of length. Because caf&eacute...

Introduction: Multiple endocrine neoplasia type 1 is an autosomal illness dominant caused by mutations in the gene menina (MEN1) with high penetrance, characterized by neoplasia parathyroid glands, anterior pituitary, endocrine pancreas and duodenum. Although it has been associated with other types of cancer like breast cancer.Methods and materials: Clinical analysis, mutational and sequencing report Sanger from gene MEN...

Maternal nutrition can have significant long-term consequences on energy homeostasis in the offspring. However, whether resveratrol, with antioxidant and anti-obesity actions, can improve the impact of poor maternal nutrition on offspring metabolism remains largely unknown. We hypothesized that resveratrol intake by dams would protect the offspring against the harmful effects of a maternal high fat diet (HFD). We also determined if resveratrol’s effects are diet and sex d...

Insulin-like growth factor (IGF) 2 plays a fundamental role in prenatal growth and development. The IGF2 gene is imprinted, with the paternally inherited copy being active and the maternal copy being silenced in most tissues. During development, the expression of IGF2 is sexually dimorphic in some tissues and this is thought to be involved in the development of some sexually dimorphic features. For example, IGF2 expression is reported to be higher in the male brain co...

Background: The majority of drug developments in type 1 diabetes (T1D) are aimed at preventing decline of beta cell function (BCF), as this has been associated with better glycaemic control and fewer long-term complications. Traditionally, BCF is evaluated by the C-peptide response to the labour-intensive mixed-meal-tolerance-test (MMTT), but there’s a need for a more practical alternative. We developed a new method to measure C-peptide in ‘dried blood spots’ (D...