ESPE Abstracts

Background: Hypoparathyroidism (HP) is the most common first endocrinopathy in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED or APS1), an autosomal recessive condition caused by mutations in the AIRE gene. Treatment of HP has not changed over the decades and parathyroid hormone is used only rarely.Aim: To describe clinical characteristics and course of HP in a cohort of patients with APECED and eva...

Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disease that is characterized by a combination of various endocrinopathies and other autoimmune disease components. Few longitudinal studies have shown a decreased life expectancy in APECED. However, knowledge on mortality and causes of death in patients with APECED is scarce.Objective: Our aim was to descr...

Objective: Treatment of primary adrenal insufficiency (PAI) is often challenging in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED or APS1). In addition, electrolyte levels often fluctuate in APECED patients. This study aimed to describe adrenal steroid and electrolyte levels in patients with APECED.Design: This cross-sectional study included 43 Finnish patients with APECED (27 females, 7 under 18 ye...

Objective: Incidence and causes of primary adrenal insufficiency (PAI) have not been comprehensively studied in children. Our objective was to describe the epidemiology and to assess national causes of PAI in children.Design: A national population-based descriptive study of PAI in patients aged 0-20 years.Methods: Diagnoses referring to adrenal insufficiency in children born in 199...

Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED or APS1) is an autosomal recessive disorder characterized by chronic candidiasis and autoimmune destruction of endocrine organs. Hypoparathyroidism (HP), adrenocortical failure (AF) and hypogonadism are the most common endocrinopathies, which together with their treatment may impact bone health. However, very little is known about the long-term skeletal health in patients with APECED.<p clas...

Background: Obesity has in males been associated with reduced testosterone levels during and after puberty. However, the onset and progress of puberty into fertility in obese boys remain inadequately evaluated.Objective and hypotheses: We aimed to study testicular function at the end of pubertal development (15–24 years) in males with severe childhood-onset obesity (height-adjusted relative weight exceeding 160% before the age of 7 years).<p cla...

Background: Autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED; APS-1) is a disorder arising from mutations in the autoimmune regulator (AIRE) gene, that lead to the development of circulating autoreactive T-cells and deficiency of regulatory T-cells. Multiple manifestations, such as primary adrenocortical insufficiency, and their treatments may disturb growth in children with APECED. However, no previous data on prepubertal growth in child...