ESPE Abstracts

Background: severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder. Recombinant human insulin-like growth factor (IGF-1) (rhIGF-1; Increlex® [mecasermin]) replacement therapy is EU and US-approved for treating growth failure due to SPIGFD. The long-term therapeutic objective of rhIGF-1 treatment in SPIGFD is to improve adult height (AH). Objective: to describe the characteristics, safety and effectiveness data ...

Background: severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder, for which insulin-like growth factor-1 (IGF-1) generation test (IGFGT) is debated as a complementary diagnostic analysis. Diagnostic workup for SPIGFD varies geographically and diagnosis is delayed by the rarity of the condition (<1/10,000). Evaluation of real-world practices of IGFGT could help facilitate diagnosis and test use. Objective: to describe rea...

Indels are highly abundant in human genomes and have contributed massively to genome evolution. However, the role of indels and their underlined mechanisms of mutagenesis in Mendelian disorders still needs to be appreciated. To explore the contribution of indels in a monogenic disorder, we analyzed all indels already described in the AR gene, including three novel indels found in our cohort. We analyzed the indel distribution through the AR coding region, compared wit...

Background: Iodine concentrations in Chilean schoolchildren are the highest in South America. This may be related to excessive sodium intake, which is associated with hypertension. However, iodine decreases blood pressure (BP), which would be a cardiovascular protective factor.Objective and hypotheses: The objective of this study is to evaluate the effects of iodine on BP and cardiovascular risk factors, despite salt intake.Method:...

Aims: The golden standard to characterize pubertal maturation is the analysis of steroid hormones in the blood. The aim of the investigation was to assess whether the analysis of salivary steroids is similarly able to characterize male pubertal development.Methods: The investigation included 165 normal boys (mean age 12.7±2.8 years, mean body mass index 19.6±4.2 kg/m2). Pubic hair stages were stratified by Tanner and testicular volum...

Background: In monogenic diabetes due to KCNJ11 and ABCC8 mutations that impair KATP- channel function, sulphonylureas improve long-term glycaemic control. Although KATP channels are extensively expressed in the brain, the effect of sulphonylureas on neurological function has varied widely. We evaluated published evidence about potential effects of sulphonylureas on neurological features, especially epilepsy, cognition, motor function and muscular tone, visuo-...

Introduction: Most patients with endocrine diseases diagnosed during childhood require long-term continuity of care. A lack of regular medical follow-up visits may be associated with impaired long-term health outcomes, with greater risks of morbidity and mortality. The importance and challenges of the transition from pediatric to adult healthcare are well recognized, but few studies have considered loss to follow-up during pediatric care. We investigated the p...

Background: Thymus transplantation is undertaken for conditions associated with severe immunodeficiency. These comprise a number of genetic and syndromic associations including 22q deletion syndrome, CHARGE association, diabetic embryopathy, and other rarer conditions. Autoimmune thyroid dysfunctions (Hashimoto's thyroiditis and Graves' Disease) are described in the literature as the most common autoimmune disease after thymic transplant.<p class="...

Background: Thymus transplantation is undertaken for conditions associated with severe immunodeficiency. These comprise a number of genetic and syndromic associations including 22q deletion syndrome, CHARGE association, diabetic embryopathy, and other rarer conditions. These conditions may also be associated with hypoparathyroidism and patients are therefore at risk of severe hypocalcaemia. There are no published guidelines for calcium replacement in these patients during the ...

Background: Non-idiopathic central precocious puberty (CPP) is caused by acquired or congenital hypothalamic lesions visible on magnetic resonance imaging (MRI), or associated with various complex genetic and/or syndromic disorders without visible lesions on MRI. We investigated the different types and prevalences of non-isolated CPP phenotypes in a large group of consecutive patients with CPP.Methods: This observational cohort study included all patient...