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Steroid profile mass spectrometry adrenal hyperplasia

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https://www.readbyqxmd.com/read/27845856/modified-release-and-conventional-glucocorticoids-and-diurnal-androgen-excretion-in-congenital-adrenal-hyperplasia
#1
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 DHEA, androstenedione and testosterone to 5α-dihydrotestosterone (DHT). However, DHT 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...
November 15, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27544322/the-urinary-steroidome-of-treated-children-with-classic-21-hydroxylase-deficiency
#2
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
https://www.readbyqxmd.com/read/27339652/multiplexed-steroid-profiling-of-gluco-and-mineralocorticoids-pathways-using-a-liquid-chromatography-tandem-mass-spectrometry-method
#3
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
https://www.readbyqxmd.com/read/26787761/mass-spectrometry-based-adrenal-and-peripheral-venous-steroid-profiling-for-subtyping-primary-aldosteronism
#4
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
https://www.readbyqxmd.com/read/26721696/an-improved-micro-method-for-the-measurement-of-steroid-profiles-by-appi-lc-ms-ms-and-its-use-in-assessing-diurnal-effects-on-steroid-concentrations-and-optimizing-the-diagnosis-and-treatment-of-adrenal-insufficiency-and-cah
#5
REVIEW
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
https://www.readbyqxmd.com/read/26204136/cholesterol-biosynthesis-and-trafficking-in-cortisol-producing-lesions-of-the-adrenal-cortex
#6
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
https://www.readbyqxmd.com/read/24863084/-analysis-of-an-iodide-radioimmunoassay-for-11-deoxicortisol-measurement
#7
COMPARATIVE STUDY
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
https://www.readbyqxmd.com/read/24582106/comparison-of-newborn-screening-protocols-for-congenital-adrenal-hyperplasia-in-preterm-infants
#8
COMPARATIVE STUDY
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
https://www.readbyqxmd.com/read/23989111/steroid-profiling-for-congenital-adrenal-hyperplasia-by-tandem-mass-spectrometry-as-a-second-tier-test-reduces-follow-up-burdens-in-a-tertiary-care-hospital-a-retrospective-and-prospective-evaluation
#9
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
https://www.readbyqxmd.com/read/23365120/prenatal-diagnosis-of-congenital-adrenal-hyperplasia-caused-by-p450-oxidoreductase-deficiency
#10
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
https://www.readbyqxmd.com/read/23333773/mass-spectrometry-theory-and-application-to-adrenal-diseases
#11
REVIEW
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
https://www.readbyqxmd.com/read/22951291/the-activities-of-5%C3%AE-reductase-and-17-20-lyase-determine-the-direction-through-androgen-synthesis-pathways-in-patients-with-21-hydroxylase-deficiency
#12
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
https://www.readbyqxmd.com/read/22718432/biomarkers-of-hypothalamic-pituitary-adrenal-axis-activity-in-mice-lacking-11%C3%AE-hsd1-and-h6pdh
#13
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
https://www.readbyqxmd.com/read/22525687/-estimation-of-influence-of-congenital-adrenal-hyperplasia-treatment-on-bone-mineralisation-evaluated-with-densitometry
#14
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
https://www.readbyqxmd.com/read/22170725/increased-activation-of-the-alternative-backdoor-pathway-in-patients-with-21-hydroxylase-deficiency-evidence-from-urinary-steroid-hormone-analysis
#15
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
https://www.readbyqxmd.com/read/22170384/steroid-profiling-by-gas-chromatography-mass-spectrometry-and-high-performance-liquid-chromatography-mass-spectrometry-for-adrenal-diseases
#16
REVIEW
Jeffrey G McDonald, Susan Matthew, Richard J Auchus
The ability to measure steroid hormone concentrations in blood and urine specimens is central to the diagnosis and proper treatment of adrenal diseases. The traditional approach has been to assay each steroid hormone, precursor, or metabolite using individual aliquots of serum, each with a separate immunoassay. For complex diseases, such as congenital adrenal hyperplasia and adrenocortical cancer, in which the assay of several steroids is essential for management, this approach is time consuming and costly, in addition to using large amounts of serum...
December 2011: Hormones & Cancer
https://www.readbyqxmd.com/read/22147458/comprehensive-2-dimensional-gas-chromatography-fast-quadrupole-mass-spectrometry-gc-%C3%A3-gc-qms-for-urinary-steroid-profiling-mass-spectral-characteristics-with-chemical-ionization
#17
Ying Zhang, Herbert J Tobias, Richard J Auchus, J Thomas Brenna
Comprehensive 2-dimensional gas chromatography (GC × GC), coupled to either a time of flight mass spectrometry (TOF-MS) or a fast scanning quadrupole MS (qMS) has greatly increased the peak capacity and separation space compared to conventional GC-MS. However, commercial GC × GC-TOFMS systems are not equipped with chemical ionization (CI) and do not provide dominant molecular ions or enable single ion monitoring for maximal sensitivity. A GC × GC-qMS in mass scanning mode was investigated with electron ionization (EI) and positive CI (PCI), using CH(4) and NH(3) as reagent gases...
November 2011: Drug Testing and Analysis
https://www.readbyqxmd.com/read/21803033/an-automated-method-on-analysis-of-blood-steroids-using-liquid-chromatography-tandem-mass-spectrometry-application-to-population-screening-for-congenital-adrenal-hyperplasia-in-newborns
#18
Kuldeep Dhillon, Thomson Ho, Patti Rich, Dadong Xu, Fred Lorey, Jianwen She, Ajit Bhandal
BACKGROUND: Newborn screening for congenital adrenal hyperplasia (CAH) is commonly accomplished by measurement of 17-α-hydroxyprogestrone (17-OHP) using enzyme immunoassay (EIA). EIA contributes a significant number of false positives. Therefore, second-tier steroid profile by liquid chromatography-tandem mass spectrometry (LC-MS/MS) is warranted. METHODS: Dried blood spots (DBS) were extracted with a mixture of methanol and water containing the deuterium labeled internal standards of d(8)-17-OHP, d(7)-androstenedione, and d(4)-cortisol...
November 20, 2011: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/21514253/simultaneous-quantification-of-17%C3%AE-oh-progesterone-11-deoxycortisol-%C3%AE-4-androstenedione-cortisol-and-cortisone-in-newborn-blood-spots-using-liquid-chromatography-tandem-mass-spectrometry
#19
P Magnisali, M-B Chalioti, T Livadara, M Mataragas, S Paliatsiou, A Malamitsi-Puchner, P Moutsatsou
Adrenal steroid profiling, including 17α-OH progesterone (17OHP), 11-deoxycortisol (S), Δ4-androstenedione (Δ4-A) and cortisol (F) in blood spots by tandem mass spectrometry, is used for newborn screening to detect congenital adrenal hyperplasia (CAH). Pre-analytical sample processing is critical for assay specificity and accuracy; however, it is laborious and time-consuming. This study describes the development and validation of a new Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS) method for the simultaneous quantification of five steroids: 17OHP, S, Δ4-A, F and cortisone (E) in blood spots from newborns...
June 1, 2011: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/21288182/confirmation-of-congenital-adrenal-hyperplasia-by-adrenal-steroid-profiling-of-filter-paper-dried-blood-samples-using-ultra-performance-liquid-chromatography-tandem-mass-spectrometry
#20
Claudia Rossi, Lisa Calton, Heather A Brown, Scott Gillingwater, A Michael Wallace, Francesca Petrucci, Domenico Ciavardelli, Andrea Urbani, Paolo Sacchetta, Michael Morris
BACKGROUND: The specificity of screening for congenital adrenal hyperplasia by direct measurement of 17-hydroxyprogesterone in filter paper dried blood spot samples by immunoassay is low and has a high false-positive rate. In order to reduce the false-positive rate of this test, we developed a rapid, robust, specific confirmatory procedure in which cortisol, 4-androstene-3,17-dione and 17-hydroxyprogesterone were measured simultaneously by ultra-performance liquid chromatography-tandem mass spectrometry...
April 2011: Clinical Chemistry and Laboratory Medicine: CCLM
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