ESPE Abstracts

Objective: Remission rates in young people with Graves’ hyperthyroidism are 25% or less after a 2-yr course of thionamide antithyroid drug (ATD). Immunomodulatory agents could potentially improve outcome by facilitating immune tolerance. We wanted to explore whether rituximab, a B lymphocyte depleting agent, would increase remission rates when administered with a short course of ATD.Design: This was an investigator-...

Background: Adrenocortical Carcinoma (ACC) represents 0.16% of all pediatric neoplasm in children, 0-14.9 years, diagnosed between 1984-2010 according to Swedish Childhood Cancer Registry. ACC is most frequent in girls below 4 years of age.Case: A physically active 14 years old girl was referred due to growth velocity 0 cm over the last year. Her history revealed substantial weight gain (photos), pubertal arrest prem...

Introduction: Aromatase deficiency is a rare cause of autosomal recessive 46, XX disorders of sex development (DSD) due to CYP19A1 gene mutations. The affected patients cannot have a normal estrogen biosynthesis. It is characterized by low serum estrogen, increased gonadotropins, and ovarian cysts. Herein, we report a new case with aromatase deficiency.Case Report: A 1-month-old girl was referred due to cliterom...

Background: It is well known that growth hormone (GH) brings about several effects, involving bone, body composition, lipids and glucose homeostasis. However, the complex interplay between these parameters is rather poorly studied in children with childhood-onset-GH deficiency (CO-GHD).Objective and hypotheses: To investigate lipids, adipokines (leptin- adiponectin- resistin) and glucose homeostasis and their relationship with bone and body composition i...

Background: Pubertal gynaecomastia (PG) is considered a clinical sign of an oestrogen–androgen imbalance at the breast tissue level although little evidence exists. PG occurs in 40–60% of adolescent Caucasian boys, and in most cases however, no underlying endocrinopathy can be identified. Very few longitudinal studies on PG exist.Objective and method: As a part of the longitudinal COPENHAGEN Puberty Study we followed 110 healthy Danish boys (ag...

Background: Alagille syndrome (ALGS) is an autosomal dominant genetic disorder, with highly variable phenotype affecting multiple organs. Commonly presents in infancy or early childhood as cholestasis. Mutations in the notch signaling pathway ligand (JAG1) or its receptor (NOTCH2) lead to ALGS. This pathway is important for the pancreatic development. However,no cases of ALGS with Congenital Hyperinsulinism (CHI) have been reported to date.<p class="abste...

Background: Congenital hypothyroidism (CH) occurs in 1:3000–1:4000 newborns. The majority of newborns with CH are detected by routine screening programs and treatment is promptly initiated following confirmatory thyroid function testing. Although early imaging studies do not influence the treatment decision or management, they establish the underlying diagnosis and may distinguish between permanent and transient CH.Objective: To assess the role of e...

Children’s linear growth is a complex process determined by genetic and environmental factors. It is well known that nutrition influences linear growth, but the precise mechanisms by which nutrition interact with height gain was never fully elucidated. In the present lecture, the way by which nutrition affects linear growth will be discussed. Specifically, we will discuss the effect of nutrition on the GH- IGF-1 axis and its local effect on the chondrocytes of the epiphys...

With the increased number of patients with diabetes on one hand and the shortage of professional teams of health care providers (HCP) worldwide on the other hand, new ways of providing medical care to patients with diabetes are needed. Decision Support Systems (DSS) and emerging tools are developed in order to help HCP during patients’ office visits and to help patients navigate their own metabolic control between office visits. Recently, tools of DSS have been tested in ...

Management of Type1 diabetes is a challenge for both patients and health-care providers. The majority of patients worldwide are not reaching the desired glycemic control. Barriers to good control include risk of hypoglycemia, glucose monitoring limitations, technologies of insulin administration, scarceness of diabetes experts their limited time required in order to give the appropriate level of personalized treatment and supervision during patients’ visits. Other reasons...