ESPE Abstracts

Background: Growth hormone (rGH) treatment is an approved growth promoting therapy in children born small for gestational age (SGA) without spontaneous catch-up. SGA infants may be born either full-term or premature. Prematurity is an additional risk factor for adult short stature. Premature children born SGA may potentially be affected by combination of the effects of prematurity and SGA status. There are only few reports on premature SGA children treated wit...

Background: In order to prevent virilization in CAH female fetuses, physicians have during the last thirty years used the synthetic glucocorticoid dexamethasone (DEX) as a therapeutic approach administered during early pregnancy. Due to the fact that treatment has to be started before the genotype of the fetus is known, seven out of eight treated fetuses will be subjected to high doses of DEX during early embryogenesis without benefit. Therefore, negative side effects cannot b...

Background: Loss of function mutations in SGPL1, a key component of sphingolipid metabolism, are associated with accumulation of sphingolipid intermediates giving rise to a multisystemic disease incorporating primary adrenal insufficiency (PAI) and progressive renal and neurological disease. Sphingolipids are implicated in mitochondrial apoptosis via induction of mitochondrial outer membrane permeabilization, cytosolic release of inter-membranal cytochrome c and activ...

Background: The genetic causes of primary hyperaldosteronism are still being discovered.Results: We present the case of a 17-years-old girl who was found by accident with severe hypertension (TA 180/100 mmHg, bilateral). Her personal history was unremarkable. Her father had hypertension and a paternal aunt had died at 55 due to a stroke. Both her sisters and mother had normal blood pressure. The cardiological examinationshowed concentric left ventricle h...

Background: Diagnostic criteria for polycystic ovarian syndrome (PCOS) are well established in the adult population, but may not be appropriate for adolescent girls. Clinical and/or biochemical hyperandrogenism is one important diagnostic criterion. Screening for hyperandrogenism is often restricted to measurements of testosterone in adult practice. It was our impression that this strategy would under-diagnose PCOS in our adolescent population.Objective ...

Loss of function mutations in SGPL1 (sphingosine-1-phosphate lyase) give rise to a multisystemic syndrome with predominating features of primary adrenal insufficiency (PAI) and steroid resistant nephrotic syndrome. Retrospective analysis of our patient cohort and the wider literature also demonstrated primary gonadal insufficiency in a third of male patients with microphallus and bilateral cryptorchidism (all with concomitant adrenal disease and high mortality in infa...

Background: Hypoglycaemia in patients with a high concentration of insulin and low concentration of C-peptide can be secondary to administration of exogenous insulin. This often results in safeguarding measures, with significant consequences for the patient and family. We report a novel case of a patient with symptomatic hypoglycaemia. Initial results suggested high insulin and low C-peptide levels, but subsequent testing revealed a pro-insulin processing diso...

Background: Wolfram Syndrome (WS) is a rare progressive neurodegenerative disorder characterised by early-onset diabetes and optic atrophy as well as a variable spectrum of other clinical features. It is caused by mutations in the WFS1 gene. There is currently limited published literature on pubertal progression and gonadal function in WS.Aims: To review the gonadal function and pubertal progression of a cohort of adoles...

Background: Hereditary hypophosphatemia (HH) are rare diseases, characterized by excessive renal phosphate wasting.Aim: The study aims to describe the burden of disease across age groups in individuals with HH.Methods: The case population was identified in the Danish National Patient Register (DNPR) from 1977 to 2019 based on relevant diagnosis codes. A journal audit was performed ...

Children diagnosed with adrenocortical tumors (ACT) have variable prognosis depending on disease presentation at diagnosis. Available therapeutic options render excellent outcome for a subset of patients, but limited improvement in the survival of those diagnosed with non-localized/advanced disease. ACT DNA methylation was recently demonstrated to be a robust and independent prognostic biomarker. Aiming to identify potential therapeutic targets for these children, we compared ...