ESPE Abstracts

Preliminary results:Objective: Although low birthweight (bw) and unfavourable intrauterine conditions have been associated with metabolic sequelae in later life, little is known about their impact on steroid metabolism. We studied genetically identical twins with intra-twin bw-differences from birth to adolescence to analyse the long-term impact of bw on steroid metabolism.Methods:...

Bile acids (BA) are C24 steroids synthesized from cholesterol in liver. Originally, they were mainly considered to function as emulsifiers supporting resorption of lipophilic food compounds and excretion of metabolic products. Recently, their additional biological and endocrine functions in the regulation of metabolism have aroused interest of researchers. In contrast to BA in blood, it is surprising that hardly any data exist on BA in the most accessible human biof...

Background: P450 oxidoreductase (POR) mutations can present with disordered sexual development (46,XX virilisation as well as 46,XY under-masculinisation), perturbed steroidogenesis and mild to severe skeletal malformations. As POR is an obligate electron donating cofactor to many P450s, and as this interaction may vary from partner to partner, the phenotypic spectrum of PORD is extremely broad. Therefore, to characterize novel POR mutations, specific testing is required.<...

Background: Disorders of androgen synthesis are rare causes of 46,XY disorder of sex development (DSD) that present with undervirilization or sex reversal.Objective: A history of a female adolescent with 46,XY DSD, initially suspected to have complete androgen insensitivity is presented.Methods: Patient history was obtained from the medical records. Urinary steroid profile was preformed using gas chromatography/mass spectrometry. T...

Context: The unified approach for obese children can result in therapeutic failure as obesity is a symptom of several conditions. It was previously suggested that only children with obesity onset beyond age 6 years will develop the metabolic syndrome and T2D. In turn, early childhood obesity carries a few times less risk of adult obesity comparing to that with the onset during juvenility.Aim: We determine the clinical an...

Context: The traditional approach to childhood obesity management is lifestyle modification/LSM. Nevertheless, the response rate is variable and difficult to predict.Aim: A systematic search for markers to predict outcomes of simple LSM in pediatric obesity management.Patients/Methods: Out of 240 children with obesity (BMI>97%), recruited to a prospective ‘multi-OMICS’ study granted b...

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 ...

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 ...

Context: Analysis of steroids by gas chromatography – mass spectrometry (GC-MS) defines a subject’s ‘steroidal fingerprint’. Here, we clustered steroidal fingerprints to classify childhood obesity by ’steroid metabolomic signatures’.Methods: Urinary samples of 87 children (44 F) age 8.5–18.0 with obesity (BMI >97%) underwent solid phase extraction, enzymatic hydrolysis and derivatization. 31 steroids metabolites wer...

Background: Glucocorticoids play an important role in the developing fetus; the most important of which is lung maturation by increasing surfactant production and release. Glucocorticoid receptor (GR) functioning changes throughout the fetal period, especially during the transition to extrauterine life. Given the importance of glucocorticoids in lung development and functioning, studying glucocorticoid sensitivity (GS) in this population would be helpful, especially in the pre...