ESPE Abstracts

Background: Pre-eclampsia is associated with important complications for both mother and baby in the short term, but there are limited data about its long-term effects on offspring metabolism. Thus, we aimed to assess whether maternal pre-eclampsia was associated with adverse effects on metabolism and body composition in the offspring in childhood.Methods: We studied healthy pre-pubertal children (aged 4–10 years) b...

Duplications of the dosage sensitive sex locus Xp21.2 have been associated with 46,XY gonadal dysgenesis (GD) for nearly 25 years. In the past, duplications have always included the NR0B1 (nuclear receptor subfamily 0 group B, member 1, also known as DAX1) gene, a known antagonist of SF1 (Steroidogenic Factor 1) dependent SOX9 (SRY Box 9) activation and the GD was attributed to its "double gene dose". However, recent findings have questioned the neces...

Drugs can interfere with immunoassays causing false measurements. Trientine (triethylene tetramine dihydrochloride) is a chelator of copper and is used in the treatment of patients with Wilson's disease as alternative for penicillamine. Trientine mainly increases urinary copper excretion leading to a negative copper balance. Serum concentrations of trientine reached under treatment are not known. This is the first report of an interference of trientine with two chemilumine...

Introduction: Osteopetrosis (OP) is a rare genetic disorder that is characterized by abnormal osteoclast function resulting in dense bones and marrow failure. The only definitive cure for OP is stem cell transplantation (SCT). Hypercalcemia is a well described complication in children with OP undergoing SCT. This study describes the calcium profile and treatment modalities used to maintain normocalcemia in children with OP undergoing SCT.<p class="abstext"...

Background: In males with congenital hypogonadotropic hypogonadism (CHH), LH/FSH stimulation of gonads is deficient. In clinical practice, two hormone replacement strategies are employed to induce and maintain virilisation: Treatment with testosterone and gonadotropin replacement with hCG/rFSH.Objective: To delineate the role of gonadotropins in pathways of male androgen biosynthesis and to thereby better define the gona...

Background: Aldosterone synthase deficiency (ASD) is caused by biallelic inactivating CYP11B2 variants. Infants mainly present with failure to thrive and salt wasting in early infancy. Moreover, different factors may cause downregulation of aldosterone synthase and secondary deficiency.Objective and Hypotheses: We present a toddler with polyuria and polydipsia and steroid hormone precursors suggestive of ASD, bu...

Aim: To study the clinical profile of Neonatal Diabetes Mellitus (NDM) at our centreObjectives: 1. To study follow-up data on growth, glycemic control2. To review genetic analysisIntroduction: NDM is rare and occurs at a frequency of 1:1,00,000. There is scarce literature on follow up of these patients although genetic data is well established (1). Developing...

Background: Congenital Hyperinsulinism (CHI), a condition characterised by dysregulation of insulin secretion from the pancreatic beta cells, remains one of the most common causes of hyperinsulinemic, hypoketotic hypoglycaemia in the newborn period. Mutations in ABCC8 and KCNJ11 constitute the majority of genetic forms of CHI. Biallelic inactivating mutations (homozygous or compound heterozygous) in ABCC8 and KCNJ11 are know...

Background: Growth hormone deficiency (GHD) requires long-term daily injections with GH replacement therapy and is associated with considerable treatment burden by patients and caregivers. Somapacitan is a long-acting GH derivative that is being developed for once-weekly dosing in adults and children with GHD. A well-established protraction method, which is successfully in use to extend the half-life of insulin and glucagon-like peptide (GLP)-1, has been applied in developing ...

Introduction: The Short Synacthen Test (SST) is the most popular diagnostic investigation of adrenal insufficiency (AI) amongst adult and paediatric endocrinologists. AI can present insidiously and symptoms may be non-specific. The number of medical indications for glucocorticoids is growing and SST usage is correspondingly increasing. There is evidence that an early morning plasma cortisol (EMC) of below ~100–150 nmol/l is highly predictive of failing the SST and the cor...