ESPE Abstracts

Background: Homozygotes for the single nucleotide polymorphisms (SNPs) rs242941 and rs1876828 of the corticotrophin-releasing hormone receptor 1 (CRHR1) gene were previously associated with lower stimulated and basal cortisol levels respectively in asthmatic children on inhaled corticosteroids. Heterozygotes for rs41423247 of the glucocorticoid receptor (NR3C1) gene were found to have higher basal cortisol levels.Objectives</stro...

Background: Treatment of children with classic congenital adrenal hyperplasia (CAH) is a difficult balance between hypercortisolism and hyperandrogenism. Biochemical monitoring of treatment is not well defined.Objective: Retrospective software-assisted analysis of urinary steroid metabolome analysis obtained by gas chromatography-mass spectrometry (GC-MS) for treatment monitoring of children with CAH.<p class="abstex...

Background: Liquid chromatography-mass spectrometry (LC-MS) based panels of steroid hormones and their precursors offer a distinct pattern of steroid metabolome for various disorders of adrenal and gonadal steroidogenesis. However, it may not be easy to handle this high throughput data rapidly in clinical setting which requires expert opinion for correct interpretations. Analytical results of steroid panelling can be allied to automated review systems to simpl...

Intact steroid hormone biosynthesis is essential for growth and development of the human fetus and embryo. In the present study, gas chromatography-mass spectrometry was employed to characterize the steroidal milieu in amniotic fluid (n=65; male: female = 35: 30) of mid-gestation (median: 18.8th week, range: 16.0th – 24.6th week) by a comprehensive targeted steroid hormone metabolomics approach. The levels of 52 steroids i...

Background: In North-Eastern Italy, a newborn screening for congenital adrenal hyperlpasia (CAH) has been taking place since 2001 to diagnose the classical form of 21-hydroxylase deficiency (21-OHD). Thanks to the screening program based on 17-OHP levels in dried blood spots, early diagnosis of CAH is possible, allowing appropriate precocious treatment and reducing mortality rates. Unfortunately, a high false positive rate, especially in preterm, low-birth-wei...

Introduction: Congenital adrenal hyperplasia (CAH) is associated with long-term health problems. However, little is known about co-morbidities and their onset in children and young persons (CYP).Objective: To establish the health status of CYP with CAH across the United Kingdom.Methods: A multi-centre prospective study recruited 102 patients with 21-hydroxylase deficiency targeting...

Objective: This project aims to evaluate the effect of two isotopically labelled internal standards on the quantification of 17OHP by liquid chromatography-tandem mass spectrometry (LC-MS/MS) and gas chromatography-tandem mass spectrometry (GC-MS/MS) as an orthogonal technique.Methods: Three LC-MS/MS and one GC-MS/MS laboratories, spanning four countries worldwide, who routinely measure serum17OHP, compared two internal ...

Introduction: In children with classical congenital adrenal hyperplasia(CCAH) linear growth allows monitoring metabolic control. Precocious puberty could compromise their growth. There are few studies in patients with CCAH diagnosed by neonatal screening(NS) about this subject.Aims: To analyze linear growth and precocious puberty in children with CCAH detected by NS.Method: Thirty-...

Background: Permanent adrenal insufficiency (AI) is an uncommon but potentially life-threatening condition in children. Patients are at particular risk during times of stress. Thus, caregivers should have good illness management skills. Despite frequent teaching and seemingly good knowledge of illness management we still see a reluctance of caregivers to administer intramuscular (IM) hydrocortisone at home when indicated, preferring instead to drive themselves...

Introduction: Despite existing guidelines there is no unified approach to glucocorticoid and mineralocorticoid replacement in congenital adrenal hyperplasia (CAH). Consequently, treatment varies in adults and children as well as across countries.Objective: We used data from the I-CAH Registry to identify geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids of children and adul...

Background: Acute lymphoblastic leukemia (ALL) is the most common cancer in children. Corticosteroids are the cornerstone in treatment of pediatric ALL. Steroids can cause several side effects including secondary adrenal insufficiency with disruption of cortisol response to stress causing morbidity and even mortality in those children.Objective: To assess the adrenal gland function of children with ALL before and after i...

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...

The changes of the immune reactivity, the production of hormones and the neuroendocrinal regulation of immune homeostasis are the entities closely connected with the puberty. There is evidence for the role of cytokines in securing of intersystemic interaction as well as for the influence of reproductive hormones on the cytokine production. However, the question as to the role of cytokine in the formation of delayed puberty continues to be relevant.<stron...