ESPE Abstracts

Background: Androgen insensitivity syndrome (AIS), ranging from complete (CAIS) to partial (PAIS) and to mild (MAIS) forms of androgen resistance, is caused by mutations in the X-linked AR gene that encodes the androgen receptor. Some cases, however, remain without a molecular genetic diagnosis that would confirm the diagnosis especially in cases that have phenotypic similarities with other 46,XY disorders of sex development.Objective and hypoth...

Background: In some studies, prepubertal children born small for gestational age (SGA) have had a higher prevalence of premature pubarche and higher serum DHEAS concentrations than children born appropriate for gestational age (AGA). The overall metabolic risk associated with birth weight is U-shaped, but it is not known if children born large for gestational age (LGA) have elevated serum DHEAS levels.Objective and hypotheses: The aim of this study was t...

Background and aim: Children with premature adrenarche (PA) have often tall stature, advanced bone maturation, and a tendency to be overweight. It has been speculated that PA may lead to unfavourable outcome, including obesity-related metabolic disturbances, but the data on long-term outcome of PA are insufficient. The aim of this work was to describe adult body composition in young females with a history of PA.Subjects and design: This prospective case-...

Background: Premature adrenarche (PA) has been linked with early pubertal development, but only few longitudinal studies on PA girls and boys born appropriate for gestational age (AGA) have been reported.Objective: Our objective was to study growth and pubertal development in PA children, and to explore which factors in prepuberty predict early menarche in girls.Methods: PA (n=43, 36 girls) and control children (n...

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...

Background: Premature adrenarche is associated with overweight and insulin resistance, but the associations of serum dehydroepiandrosterone sulphate (DHEAS) concentration with other cardiometabolic risk factors are uncertain.Objective and hypotheses: We studied whether cardiometabolic risk factors and their clustering differ between children with higher and lower serum DHEAS concentration.Method: We studied 432 healthy children (20...

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...