ESPE Abstracts

Background: Autoimmune polyendocrine syndrome type 2 (APS2) is a complex disorder characterised by the obligatory occurrence of Addison disease in combination with thyroid autoimmune disorder and/or type 1 diabetes. APS 2 is the most common autoimmune polyendocrine syndrome and is primarily manifest in adult age. Premature ovarian failure (POF) is defined as sustained amenorrhea before the age of 40 years, FSH levels higher than 40 UI/l and hypoestrogenism associated with infe...

Background: Vitamin D deficiency/insufficiency seems to occur frequently in children and teenagers but it is a matter of debate if limits (<20 ng/ml; <30 ng/ml) are correct. Besides its effect in bone metabolism Vit-D is also supposed to have a positive influence in diabetes mellitus 1 (DM1).Objective and hypotheses: To study 25OHD and iPTH values in a group of patients (pts) (n=57) with DM1 without Vit-D substitution (2011), with 1000 I...

Background: Type 1 DM is an autoimmune disease, characterized by destruction of the insulin-producing beta-cells in the islets of Langerhans. The absolute insulin deficiency leads to metabolic imbalance with hyperglycaemia, acidosis and proneness to ketosis. This acute disturbance can change thyroid hormone metabolism.Objective and hypotheses: To examine the influence of metabolic acidosis/ketoacidosis in type 1 DM on thyroid hormone levels.<p class=...

Background: Early predictors of cardiovascular risk using anthropometric and laboratory variables available in the general practice in obese children are poorly identified.Objective and hypotheses: To identify best predictors of early cardiovascular risk in obese children between anthropometric and laboratory parameters.Method: Cardiovascular risk was determined by measuring intima-media thickness of the right common carotid artery...

Background: Menarche is a milestone in human sexual development as it denotes the achievement of fertility. Few studies have evaluated the age at menarche (AAM) in chronic respiratory disease.Objective: The main aim of this study is to investigate AAM and menarcheal determinants in girls affected by Cystic Fibrosis or Asthma, and to compare their AAM with healthy girls’ one.Subjects and method: The study was conducted on 1207 ...

Background: Ovarian reserve is defined as the functional potential of the ovary, which reflects the number and quality of the follicles left in the ovary at any given time. In literature there studies about the evaluation of ovarian reserve after ovariectomy for tumors and cysts, using serum markers, such as inhibin-B, and anti-Mullerian hormone (AMH), combined to ultrasonographic markers, in adult women but none in peri-pubertal girls.Case presentation:...

Background: Calcium homeostasis is primarily regulated by vitamin D. In the absence of the active hormone or a functional receptor, bones are inadequately mineralized, leading to the development of rickets. Vitamin D-dependent rickets type 2 (VDDR2) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene.Case Report: A 12-months-old girl was transported to the local hospital ED with a three-minute ...

Background: Therapy in type 1 diabetes has undergone a fundamental change over the last several decades, especially by the use of technical devices. Another change that took place is the growing awareness of sex differences of all kind, e.g. as influencing factors of metabolic control. Our study aimed to evaluate sex differences over two decades with regard to changes in glycaemic control, with regard to trends in insulin pump use and insulin dose. Migration b...

Background: Pubertal induction in girls with hypogonadism through estrogen replacement therapy (ERT) aims at the development of secondary sexual characteristics, cognitive functions, uterine growth and maturation, bone mass accrual and linear growth. To date, the best induction regimen, capable of assuring both physiological gradual progression through Tanner stages and effective uterine development, is still to be established.Patients a...

Schaaf-Yang syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13. SYS is a neurodevelopmental disorder that has clinical overlap with Prader-Willi Syndrome in the initial stages of life, being the intellectual disability, developmental delay, autism spectrum disorder, neonatal hypotonia, infantile feeding problem...