ESPE Abstracts

Objective: Recent studies have suggested earlier onset of pubertal development in boys. As assessment with orchidometer tends to overestimate true testicular volume (TV), and measurements based on ultrasound (US) have been proposed as a more reliable method, we present US based references in 6-16 year-old Norwegian boys. Our results are compared with data from Europe and the United States (U.S.) in order to establish evidence for an ongoing secular trend in ma...

Background: Using ultrasound to examine the glandular breast tissue is a promising method for staging pubertal breast development. However, breast ultrasound for this purpose has not been explored in a large sample of healthy girls in different developmental stages, and normative data have been unavailable.Objective: To present novel pubertal references for breast ultrasound stages, Tanner breast (B) and pubic hair (PH) ...

Introduction: Male puberty is initiated by endocrine signaling in the hypothalamic-pituitary axis whereby follicle-stimulating hormone (FSH) and luteinizing hormone (LH) enable testicular maturation and synthesis of testosterone. Recent publications have eluded to overnutrition and obesity as relevant factors that may accelerate the timing of puberty. Attainment of testicular volume (TV) 4 ml measured by Prader orchidometer remains the definition of male puber...

Background: There is a rise in overweight and obesity among children and adolescents with type 1 diabetes (T1D) in parallel with a rise in the metabolic syndrome (MS) among children and adolescents in general.Objective: The aim of the study was to describe the prevalence and characteristics of the MS in children and adolescents with T1D compared to their healthy counterparts.Design and Sett...

Introduction: Congenital generalized lipodystrophies (CGL); autosomal recessive disorders characterized by dyslipidemia and almost complete absence of body fat associated with insulin resistance. It develops due to mutations in AGPAT2, BSCL2, CAV1, PTRF, PCYT1A and PPAR, genes.CGL type 4 results from PTRF-CAVIN gene mutation. Unlike classical CGL, myopathy, flat and skeletal muscle hypertrophy, heart rhythm disorders (sudden death) and skeletal abnormalities a...

Background: The majority of Turner syndrome (TS) girls need exogenous estrogen treatment to induce normal uterine growth. The optimal estrogen treatment protocol has not been determined.Objective and hypotheses: To compare the effect of two different dosing regimens of oral 17β-estradiol on uterine size with the hypotheses that most girls with TS would benefit from a higher dose.Method: A double-blind 5-year randomized control...

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is a rare disease associated with mutations in the autoimmune regulator (AIRE) gene and characterized by mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and primary adrenal insufficiency (AI). Two of these three components are required for diagnosis.Objective and hypotheses: To describe Russian patients in terms of clinical, genetic, and immunological parameters....

Background: Turner syndrome (TS) is associated with increased arterial stiffness. To date, factors associated with the ontogeny of Turner arteriopathy remain unclear.Objective and hypotheses: To assess the associations of vascular biomarkers and the somatotrophic axis with arterial stiffness indices, and left heart size, in normotensive ‘dipper’ TS.Method: Sixty-one patients with uncomplicated normotentensive &#1...

Introduction: It is known that microduplications including the SOX3 gene and intragenic duplications leading to loss of function in the gene cause panhypopituitarism, which can be accompanied by intellectual failure. Here, we report the first known case of panhypopituitarism, a deletion of the X chromosome, including the SOX3 gene in the q27.1q27.3 region.Case: A 15-years and two months old male patient was referred to o...

Background: N-methyl-D-aspartate receptors (NMDARs) are ionotropic glutamate receptors that are widely expressed in the CNS where they play an important role in neurotransmission and cell viability and serve as drug targets for the treatment of neurodegenerative disorders.Objective and hypotheses: Much less is known about the role of pancreatic NMDARs. Since neurons and pancreatic islets have many features in common, we hypothesiz...