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Steroid profile mass spectrometry adrenal hyperplasia

Dominika Zalas, Thomas Reinehr, Marek Niedziela, Christoph Borzikowsky, Maciej Flader, Gunter Simic-Schleicher, Halit Ilker Akkurt, Sabine Heger, Nadine Hornig, Paul-Martin Holterhus, Alexandra E Kulle
BACKGROUND/AIMS: The high complexity of pediatric reference ranges across age, sex, and units impairs clinical application and comparability of steroid hormone data, e.g., in congenital adrenal hyperplasia (CAH). We developed a multiples-of-median (MoM) normalization tool to overcome this major drawback in pediatric endocrinology. METHODS: Liquid chromatography tandem mass spectrometry data comprising 10 steroid hormones representing 905 controls (555 males, 350 females, 0 to > 16 years) from 2 previous datasets were MoM transformed across age and sex...
April 25, 2018: Hormone Research in Pædiatrics
Therina du Toit, Maria A Stander, Amanda C Swart
In the present study an ultra-performance convergence chromatography tandem mass spectrometry (UPC2 -MS/MS) analytical method was developed and validated for the determination of 17 C19 and 14 C21 steroids, including C11-oxy C19 and C11-oxy C21 steroids. The limit of detection and limit of quantification ranged from 0.01 to 10 ng/mL and from 0.01 to 20 ng/mL, respectively, and the method shows the recovery, matrix effect and process efficiency of steroids isolated from a serum matrix to be within acceptable limits...
March 30, 2018: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
John W Honour, E Conway, R Hodkinson, F Lam
The metabolites of cortisol, and the intermediates in the pathways from cholesterol to cortisol and the adrenal sex steroids can be analysed in a single separation of steroids by gas chromatography (GC) coupled to MS to give a urinary steroid profile (USP). Steroids individually and in profile are now commonly measured in plasma by liquid chromatography (LC) coupled with MS/MS. The steroid conjugates in urine can be determined after hydrolysis and derivative formation and for the first time without hydrolysis using GC-MS, GC-MS/MS and liquid chromatography with mass spectrometry (LC-MS/MS)...
February 23, 2018: Journal of Steroid Biochemistry and Molecular Biology
Jolaine M Hines, Irina Bancos, Cristian Bancos, Raman D Singh, Aditya V Avula, William F Young, Stefan K Grebe, Ravinder J Singh
BACKGROUND: Steroid profiling is a promising diagnostic tool with adrenal tumors, Cushing syndrome (CS), and disorders of steroidogenesis. Our objective was to develop a multiple-steroid assay using liquid-chromatography, high-resolution, accurate-mass mass spectrometry (HRAM LC-MS) and to validate the assay in patients with various adrenal disorders. METHODS: We collected 24-h urine samples from 114 controls and 71 patients with adrenal diseases. An HRAM LC-MS method was validated for quantitative analysis of 26 steroid metabolites in hydrolyzed urine samples...
December 2017: Clinical Chemistry
Angelos Kyriacou, Karolina M Stepien, Basil Issa
A 51-year old woman was admitted with multiple cerebral, pulmonary and intra-abdominal abscesses. The combination of apparent immunosuppression, obesity, diabetes mellitus, hypertension, hypokalaemia, osteoporotic fractures and bilateral shoulder avascular necrosis led to a clinical diagnosis of Cushing's syndrome (CS). This was biochemically confirmed as follows: midnight serum cortisol 4275 nmol/L (60-250), non-suppressed overnight dexamethasone suppression test, raised salivary cortisol 716 nmol/L (5-46) and ACTH 639 ng/L (0-46)...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
Christopher M Jones, Ashwini Mallappa, Nicole Reisch, Nikolaos Nikolaou, Nils Krone, Beverly A Hughes, Donna M O'Neil, Martin J Whitaker, Jeremy W Tomlinson, Karl-Heinz Storbeck, Deborah P Merke, Richard J Ross, Wiebke Arlt
Context: The classic androgen synthesis pathway proceeds via dehydroepiandrosterone, androstenedione, and testosterone to 5α-dihydrotestosterone. However, 5α-dihydrotestosterone synthesis can also be achieved by an alternative pathway originating from 17α-hydroxyprogesterone (17OHP), which accumulates in congenital adrenal hyperplasia (CAH). Similarly, recent work has highlighted androstenedione-derived 11-oxygenated 19-carbon steroids as active androgens, and in CAH, androstenedione is generated directly from 17OHP...
June 1, 2017: Journal of Clinical Endocrinology and Metabolism
Clemens Kamrath, Lisa Wettstaedt, Claudia Boettcher, Michaela F Hartmann, Stefan A Wudy
Monitoring treatment of children with classic congenital adrenal hyperplasia (CAH) is difficult and biochemical targets are not well defined. We retrospectively analysed 576 daily urinary steroid hormone metabolite profiles determined by gas chromatography-mass spectrometry of 150 children aged 3.0-17.9 years with classic 21-hydroxylase deficiency (21-OHD) on hydrocortisone and fludrocortisone treatment. Daily urinary excretion of glucocorticoid-, 17α-hydroxyprogesterone (17-OHP)-, and androgen metabolites as well as growth and weight gain are presented...
January 2017: Journal of Steroid Biochemistry and Molecular Biology
Simon Travers, Laetitia Martinerie, Claire Bouvattier, Pascal Boileau, Marc Lombès, Eric Pussard
Serum steroid assays are major tools in the clinical evaluation of adrenal disorders. The main adrenal steroids are routinely measured with immunoassays. However, chromatographic methods are known to offer better specificity. We report a liquid chromatography-tandem mass spectrometry (LC-MS/MS) assay for simultaneous quantification of 15 adrenal steroids targeting the mineralo- and gluco-corticosteroid pathways. Serum steroids combined with deuterated internal standards were extracted using successive protein precipitation and solid phase extraction steps...
January 2017: Journal of Steroid Biochemistry and Molecular Biology
Graeme Eisenhofer, Tanja Dekkers, Mirko Peitzsch, Anna S Dietz, Martin Bidlingmaier, Marcus Treitl, Tracy A Williams, Stefan R Bornstein, Matthias Haase, L C Rump, Holger S Willenberg, Felix Beuschlein, Jaap Deinum, Jacques W M Lenders, Martin Reincke
BACKGROUND: Differentiating patients with primary aldosteronism caused by aldosterone-producing adenomas (APAs) from those with bilateral adrenal hyperplasia (BAH), which is essential for choice of therapeutic intervention, relies on adrenal venous sampling (AVS)-based measurements of aldosterone and cortisol. We assessed the utility of LC-MS/MS-based steroid profiling to stratify patients with primary aldosteronism. METHODS: Fifteen adrenal steroids were measured by LC-MS/MS in peripheral and adrenal venous plasma from AVS studies for 216 patients with primary aldosteronism at 3 tertiary referral centers...
March 2016: Clinical Chemistry
Brian R Stolze, Verena Gounden, Jianghong Gu, Elizabeth A Elliott, Likhona S Masika, Brent S Abel, Deborah P Merke, Monica C Skarulis, Steven J Soldin
Our goals were to (1) develop an improved micro-method usable for neonates for steroid profile measurements and a method to measure androsterone, a key steroid in the recently described androgen backdoor pathway together, with dehydroepiandrosterone and (2) to assess if dehydroepiandrosterone diurnal concentration fluctuations exist potentially necessitating strict adherence to time of blood sample draw and requirement of separate time-dependent reference intervals. Liquid chromatography-tandem mass spectrometry was performed with an atmospheric pressure photoionization source [1]...
September 2016: Journal of Steroid Biochemistry and Molecular Biology
Edra London, Christopher A Wassif, Anelia Horvath, Christina Tatsi, Anna Angelousi, Alexander S Karageorgiadis, Forbes D Porter, Constantine A Stratakis
CONTEXT: Cortisol-producing adenomas (CPAs), primary pigmented nodular adrenocortical disease (PPNAD), and primary macronodular adrenocortical hyperplasia (PMAH) cause ACTH-independent Cushing syndrome (CS). Investigation of their pathogenesis has demonstrated their integral link to the cAMP-dependent protein kinase signaling pathway. OBJECTIVE: The aim of this study was to identify differences in cholesterol biosynthesis among different CS-causing adrenocortical tumors...
October 2015: Journal of Clinical Endocrinology and Metabolism
João Luiz de Oliveira Madeira, Luciane Zgoda Bussmann, Helena Panteliou Lima-Valassi, Berenice Bilharinho de Mendonça
OBJECTIVE: Our aim was to correlate 11-deoxycortisol levels obtained by two currently available techniques for 11-deoxycortisol measurement: radioimmunoassay, and high performance liquid chromatography followed by tandem mass spectrometry (MS/MS). The latter is the gold standard method for steroid hormone measurement. MATERIALS AND METHODS: We selected 88 samples and the results of these two methods were compared by Deming regression. RESULTS: The analytical sensitivity of the RIA was 0...
April 2014: Arquivos Brasileiros de Endocrinologia e Metabologia
Kyriakie Sarafoglou, Amy Gaviglio, Amy Hietala, Garen Frogner, Kathryn Banks, Mark McCann, William Thomas
OBJECTIVE: To compare 2 screening protocols performed concurrently in Minnesota: (1) liquid chromatography tandem mass spectrometry steroid profiling as a second-tier test on positive fluoroimmunoassay (FIA) results; and (2) low-birthweight 3-screen protocol (FIA tests at <48 hours, 2 weeks, 4 weeks) on all infants <1800 g, regardless of result. STUDY DESIGN: Population-based study of all <1800 g infants (n = 8739) born in Minnesota from 2004-2010 comparing newborn screening performance metrics of 2-tier (FIA + liquid chromatography tandem mass spectrometry) protocol (2004-2010) vs 1-tier (FIA) low-birthweight 3-screen protocol (2006-2010)...
May 2014: Journal of Pediatrics
Ja Young Seo, Hyung-Doo Park, Jong Won Kim, Hyeon Ju Oh, Jeong Soo Yang, Yun Sil Chang, Won Soon Park, Soo-Youn Lee
BACKGROUND: Newborn screening for congenital adrenal hyperplasia (CAH) based on measuring 17-hydroxyprogesterone (17-OHP) by immunoassay generates a number of false-positive results, especially in preterm neonates. We applied steroid profiling by using liquid chromatography-tandem mass spectrometry (LC-MS/MS) as a second-tier test in newborns with positive CAH screening and evaluated its clinical utility in a tertiary care hospital setting. METHODS: By performing a 4-year retrospective data review, we were able to test 121 dried blood spots from newborns with positive CAH screening for 17-OHP, androstenedione and cortisol levels by LC-MS/MS...
January 2014: Journal of Perinatal Medicine
Nicole Reisch, Jan Idkowiak, Beverly A Hughes, Hannah E Ivison, Omar A Abdul-Rahman, Laura G Hendon, Ann Haskins Olney, Shelly Nielsen, Rachel Harrison, Edward M Blair, Vivek Dhir, Nils Krone, Cedric H L Shackleton, Wiebke Arlt
CONTEXT: Mutations in the electron donor enzyme P450 oxidoreductase (POR) result in congenital adrenal hyperplasia with apparent combined 17α-hydroxylase/17,20 lyase and 21-hydroxylase deficiencies, also termed P450 oxidoreductase deficiency (PORD). Major clinical features present in PORD are disordered sex development in affected individuals of both sexes, glucocorticoid deficiency, and multiple skeletal malformations. OBJECTIVE: The objective of the study was to establish a noninvasive approach to prenatal diagnosis of PORD including assessment of malformation severity to facilitate optimized prenatal diagnosis and timely treatment...
March 2013: Journal of Clinical Endocrinology and Metabolism
Kerry M Wooding, Richard J Auchus
The diagnosis and management of adrenal diseases hinge upon accurate determination of hormone concentrations in blood and other body fluids. The advent of immunoassays for various steroid hormones has enabled the remarkable progress in adrenal disease over the last several decades, with some limitation. Sequential immunoassay of single analytes is a tedious process, which requires aliquots for each assay. In many complex adrenal diseases, including adrenal cancer and congenital adrenal hyperplasia, the patterns or ratios of multiple steroids rather than the value of any one steroid is more relevant...
May 22, 2013: Molecular and Cellular Endocrinology
Clemens Kamrath, Michaela F Hartmann, Thomas Remer, Stefan A Wudy
OBJECTIVE: The 'backdoor' pathway provides an efficient route from 17α-hydroxyprogesterone (17-OHP) to dihydrotestosterone (DHT) in patients with 21-hydroxylase deficiency (21-OHD). 17-OHP is a good substrate for 5α-reductase leading to 17α-hydroxyallopregnanolone, which is an excellent substrate for the 17,20-lyase activity of CYP17A1. 5α-Reductase and CYP17A1 are therefore two crucial enzymes in the backdoor route. The 17,20-lyase activity of CYP17A1 additionally promotes the conversion of 17-OHP and 17α-hydroxypregnenolone to androgens in the classical Δ(4) and Δ(5) pathways...
November 2012: Steroids
Lianne Abrahams, Nina M Semjonous, Phil Guest, Agnieszka Zielinska, Beverly Hughes, Gareth G Lavery, Paul M Stewart
Glucocorticoid concentrations are a balance between production under the negative feedback control and diurnal rhythm of the hypothalamic-pituitary-adrenal (HPA) axis and peripheral metabolism, for example by the enzyme 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1), which catalyses the reduction of inactive cortisone (11-dehydrocorticosterone (11-DHC) in mice) to cortisol (corticosterone in mice). Reductase activity is conferred upon 11β-HSD1 by hexose-6-phosphate dehydrogenase (H6PDH). 11β-HSD1 is implicated in the development of obesity, and selective 11β-HSD1 inhibitors are currently under development...
September 2012: Journal of Endocrinology
Hanna Romanowska, Elżbieta Krzywińska-Zdeb, Maria Giżewska, Lilia Kotkowiak, Krzysztof Safranow, Anita Horodnicka-Józwa, Elżbieta Petriczko, Beata Krupa, Mieczysław Walczak
INTRODUCTION: Doses of glucocorticoids used when treating congenital adrenal hyperplasia (CAH) are larger than physiological secretion of hydrocortisone in healthy people. Optimal dosage should provide metabolic control and should not cause complications of steroid therapy. AIM OF THE STUDY: 1. Evaluation of the influence of CAH treatment on bone mineralisation established with densitometry. 2. Evaluation of steroid profiles usage, in estimation of bone mineralisation disorders risk in patients with CAH...
2012: Pediatric Endocrinology, Diabetes, and Metabolism
Clemens Kamrath, Ze'ev Hochberg, Michaela F Hartmann, Thomas Remer, Stefan A Wudy
BACKGROUND: 17-Hydroxyprogesterone (17-OHP) can be converted to dihydrotestosterone (DHT) via an alternative "backdoor" route that bypasses the conventional intermediates androstenedione and testosterone. In this backdoor pathway, 17-OHP is converted to 5α-pregnane-3α,17α-diol-20-one (pdiol), which is an excellent substrate for the 17,20 lyase activity of CYP17A1 to produce androsterone. OBJECTIVE AND HYPOTHESES: The objective of this study was to obtain evidence for the presence of the backdoor pathway in patients with 21-hydroxylase deficiency (21-OHD)...
March 2012: Journal of Clinical Endocrinology and Metabolism
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