ESPE Abstracts

Background: Steroids are found in human blood predominantly as sulfated steroids. Conjugation of steroids increases their solubility in blood, facilitating their physiological regulation and excretion. Chromatographic separation and quantification of an extensive number of sulfated steroids is challenging. For instance, androgen sulfates are structurally related and their signals are very similar in mass spectrometry.Objective and hypotheses: Some of the...

Background: Type 1 diabetes mellitus (T1DM) is caused by autoimmunity against the pancreatic beta-cell. Although a significant number of T1DM patients develop further autoimmune disorders during lifetime, coexisting severe immunodysregulation is rare.Objective and hypotheses: Presuming autosomal-recessive inheritance in a complex immunodysregulation disorder including T1DM in two siblings born to consanguineous parents, we performed whole exome sequencin...

Background: Synchronous, multiple central nervous system (CNS) tumors are usually rare in pediatric patients. Pilocytic astrocytomas are the major type of CNS tumors in neurofibromatosis type 1 (NF1).Case presentation: A 6.5-year-old boy was admitted to our hospital for severe emaciation. Profound fat and muscle wasting were the only prominent clinical features. His growth rate was preserved despite his rapid dramatic weight loss (HT: 118 cm, P....

Introduction: International guidelines for management of Duchenne Muscular Dystrophy (DMD) advise active screening for vertebral fractures (VF), complications of which include pain, scoliosis and impact on ambulation. Vertebral fracture assessment (VFA) is a technique of visualising thoracic and lumbar vertebrae with a lateral view on dual energy X-ray absorptiometry (DEXA) to identify VF. This is at reduced cost and radiation exposure when compared to spinal ...

Initially discovered in the 1970s, the C21 steroidal acids α-cortolic acid, β-cortolic acid, α-cortolonic acid and β-cortolonic acid present the terminal oxidative products of cortisol metabolism. Undergoing renal elimination, these cortoic acids have been assumed to represent up to 25% of total urinary cortisol metabolites. However, their analysis has been difficult, only few data has been published in adults, and this class of steroids has beco...

Background: Few studies have investigated in detail how the pubertal breast maturation in girls is related to the pubertal growth spurt in a longitudinal setting. The golden standard for assessment of secondary sex characteristics for girls includes breast development (B1-B5)1. The different maturation stages follow the increasing estradiol production from the ovaries also giving rise to the pubertal growth spurt. The QEPS-growth model makes it poss...

Background: GH deficiency remains the main indication for GH therapy in children. GH therapy has subsequently been approved in the USA and Europe for other conditions resulting in short stature, including Turner Syndrome, being born small for gestational age with failure to attain normal growth, Prader-Willi Syndrome, chronic renal insufficiency, short stature homeobox-containing gene deficiency, and in the USA exclusively Noonan Syndrome and idiopathic short ...

Background: Low birth-weight and unfavourable intrauterine conditions are associated with a subsequent impact on the endocrine system. Many studies reported hyperandrogenaemia and precocious adrenarche in children born small for gestational age (SGA). However, little information is available on steroid profiles in these subjects.Objective and Hypotheses: We followed genetically identical twins with intra-twin birth-weigh...

Background: Biallelic mutations of the CYP11B2 aldosterone synthase gene cause deficiency of aldosterone synthesis. Patients exhibit isolated deficiency of aldosterone biosynthesis, increased plasma renin activity, increased steroid precursors desoxycorticosterone, corticosterone, as well as 18-hydroxy-desoxycorticosterone, and show salt wasting and poor growth. The aldosterone synthase enzyme has 18-hydroxylase (corticosterone methyloxidase type I, CMO I) and 18-oxidase (CMO ...

Background: Serum dihydrotestosterone (DHT) is an important analyte for the clinical assessment of disorders of sex development. It is also reportedly a difficult analyte to measure. Currently there are significant gaps in the standardisation of this analyte, including no external quality assurance (EQA) program available worldwide to allow for peer performance review of DHT.Objective and hypotheses: We therefore proposed to establish an EQA program for ...