ESPE Abstracts

Background: X-linked adrenoleukodystrophy (X-ALD) presents with two phenotypes: i) an adult form (adrenomyeloneuropathy, AMN), that involves axonal tracts without demyelination within the spinal cord and affects adult males and more than 80% of X-ALD heterozygote women in adulthood resulting in severe paraplegia. This far the most frequent form of X-ALD. Addison’s disease is very rare in X-ALD women but frequent in adult AMN males, very often with onset years or decades b...

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Patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), develop autoantibodies to multiple self-proteins. The patients have high titer autoantibodies to multiple cytokines, most prominently to type 1 interferons and cytokines associated with Th17 cell functions. In addition to these signature autoantibodies, APECED patients develop autoantibodies to many other self-proteins characteristic to autoimmune diseases and display broad autoantibody repe...

Central hypothyroidism (CeH) can be defined as a lower than desirable secretion of thyroid hormone by a normal thyroid gland resulting from (quantitative or qualitative) insufficient TSH secretion. Causes are congenital and acquired functional or anatomic defects of the hypothalamus, pituitary gland or both. CeH can be difficult to diagnose, especially in children without a history of brain defects or brain damaging treatment (e.g. irradiation), and when plasma FT4 concentrati...

Monogenic forms of diabetes have specific treatments that differ from the standard care provided for type 1 and type 2 diabetes, making the appropriate diagnosis essential. Misclassification of all diabetes types may occur and healthcare providers should be aware of this possibility. A systematic approach to subjects who are newly diagnosed with diabetes can assist classification of common forms of diabetes and identify those in whom molecular investigation would be advantageo...

Background: Vitamin D plays a significant role in musculoskeletal health and various extraskeletal functions making the prevention and treatment of this vitamin (now considered as a hormone) of utmost importance. Literature on requirement/supplementation of vitamin D in asymptomatic children is scarce and this study was an attempt to see the effect of three different doses of cholecalciferol supplementation regimens in children with asymptomatic vitamin D deficiency.<p cla...

Background: The prevalence of childhood type 1 diabetes mellitus (T1DM) is increasing and the age at presentation is falling. Late presentation with diabetic ketoacidosis (DKA) is more common in younger children who are at increased risk of cerebral oedema.Objective and hypotheses: To describe the clinical presentation of new onset T1DM to our centre and report time to diagnosis, incidence of DKA, requirement for intensive care and complications.<p c...

Background: GH deficiency (GHD) is an endocrine condition, caused by problems arising in the pituitary gland that does not produce sufficient quantities of GH. GHD is treated by replacing GH with one daily injections. Recent studies suggested that GH could be involved in regulation of certain stem cell subset potential and function. However, the exact effects of GH therapy on biology of stem cells in paediatric patients were not studied in detail.Methods...

We present the case of a now 11 years old girl with the ultra-rare severe insulin resistance Rabson-Mendenhall syndrome due to the previously undescribed compound heterozygous mutations exon 16: c.2986A>G (Paternal) and intron 9: c.2029+1G>T (maternal) of the insulin receptor gene. The phenotypic findings were composed of dystrophy (birth weight 1970g, small for gestational age), hyperglycemia (up to 400mg/dl), severe acanthosis nigricans and mild cardiac septal hyperpla...

Context: Puberty timing is highly heritable. Recent genome-wide association studies, comparing timing of menarche in girls to timing of voice-break and facial hair in boys, revealed a largely overlapping genetic architecture of female and male pubertal timing. However, it is also known that genetic heterogeneity between sexes exists for some loci.Objectives: We hypothesized that self-reported relative parental pubertal t...