ESPE Abstracts

Background: Obesity is associated with alterations in glucose metabolism, often present from childhood.Objective and hypotheses: To assess the prevalence of glucose metabolism alterations and insulin resistance in a group of obese, otherwise healthy children and adolescents from Greece.Method: It is a retrospective study of 130 obese children and adolescents, 79 girls (61%), aged 5.4 to 15.2 years (mean±S.D.: 10...

Background: Precocious puberty is defined as pubertal development that begins at an earlier age than expected; most paediatric endocrinology subspecialists use cutoff ages of 8 years for girls and 9 years for boys.Objective and hypotheses: We reported in this case, rare association between type 1 diabetes mellitus and precocious puberty.Method: We present a girl with type 1 diabetes developed at the age of 3 years, with good glycae...

Background: In paediatric CNS tumours, germ cell neoplasms usually produce endocrine disorders helping an early diagnosis.Objective and hypotheses: To describe presenting symptoms in paediatric CNS germ cell tumours and endocrine abnormalities on follow-up.Methods: We reviewed the records of children and adolescents aged under 14 who were followed in our unit presenting a CNS germ cell tumour. Endocrine abnormalities at diagnosis a...

Background: Xenoestrogens are artificial oestrogen compounds, found in our environment throughout various chemical products, and claimed to affect the process of early puberty among young females.Objective and hypotheses: To investigate the relationship between exposure to xenoestrogen products and early pubertal sex development.Method: Cross-sectional study conducted in Jeddah, Saudi Arabia in July 2014 (n=568), pubertal ...

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED, OMIM240300) is a rare monogenic disease due to biallelic mutations in the Autoimmune Regulator (AIRE) gene. This encodes for a thymus-enriched transcription factor responsible for central immune tolerance. Classic diagnostic criteria are the presence of two of main symptoms of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and Addison’s disease (AD). Non-endocrine autoimmun...

Introduction: Salt wasting is a potentially life-threatening condition in the newborn period. Other than 21 OH-CAH other rarer adrenal causes should be considered in the differential diagnosisObjective: To report the laboratory, clinical features, management and genotype of a series of consecutive patients who showed up at our Center for a salt wasting syndrome in the last 32 years, excluding patients with 21 OH CAH....

Background: Menarche is the endpoint of a complex sequence of maturational events but is the unique marker of female puberty. Timing of menarche is a strongly heritable trait. However, secular trends suggest that lifestyle and/or environmental factors are important.Objective: To assess the trend in age at menarche (AAM) in Istanbul over the last 12 years, and compare the patterns according to socioeconomic status (SES), ...

Background: The hypothalamus-pituitary-adrenal (HPA) axis displays a diurnal rhythm, peaking in the morning and with a nadir at night. However, not much is known about the development of the HPA- axis, although strikingly some evidence suggests that a rhythm with a peak in the afternoon is already present antenatally. We aimed to describe HPA-axis activity at age 1 month as well as study possible influencing factors.Methods</stro...

Background: Sexual maturation is closely linked to growth, suggesting common pathways between the reproductive development and the growth hormone/insulin-like growth factor-I (GH/IGF-I) axis. IGF-I bioavailability is regulated by Pregnancy associated plasma protein-A (PAPP-A), Pregnancy associated plasma protein-A2 (PAPP-A2) and Stanniocalcin 2 (STC2). A large genome-wide association study (GWAS) identified PAPP-A, PAPP-A2 and STC2 to represent loci strongly a...

Background: Adrenarche describes the developmental event of the human adrenal cortex when the zona reticularis increases the synthesis of C19 steroids (DHEA/-S) markedly at around 6-8 years of age. Early appearance of this event is called premature adrenarche (PA) and has been associated with adverse outcomes including polycystic ovary syndrome and metabolic syndrome. Recently novel biosynthetic pathways of androgen production have been revealed, but their rol...