A guide to understanding the steroid pathway: New insights and diagnostic implications

Clinical Biochemistry - Tập 47 - Trang 5-15 - 2014
Ronda F. Greaves1,2, Ganesh Jevalikar3, Jacqueline K. Hewitt2,4,5, Margaret R. Zacharin2,4,5
1School of Medical Sciences, RMIT University, Victoria, Australia
2Murdoch Children’s Research Institute, Melbourne, Australia
3Medanta Medicity Hospital, Gurgaon Haryana, India
4Department of Endocrinology & Diabetes, The Royal Children's Hospital, Victoria, Australia
5Department of Paediatrics, University of Melbourne, Victoria, Australia

Tài liệu tham khảo

Abraham, 1969, Solid-phase radioimmunoassay of estradiol-17 beta, J Clin Endocrinol Metab, 29, 866, 10.1210/jcem-29-6-866 Horning, 1968, Gas phase analytical methods for the study of steroids, Adv Lipid Res, 6, 273, 10.1016/B978-1-4831-9942-9.50014-0 Shackleton, 2010, Clinical steroid mass spectrometry: a 45-year history culminating in HPLC–MS/MS becoming an essential tool for patient diagnosis, J Steroid Biochem Mol Biol, 121, 481, 10.1016/j.jsbmb.2010.02.017 Mitchell, 1969, The investigation of steroid metabolism in early infancy, Adv Clin Chem, 12, 141, 10.1016/S0065-2423(08)60259-0 Sweeley, 1960, Microanalytical separation of steroids by gas chromatography, Nature, 187, 144, 10.1038/187144a0 Starling, 1905, The Croonian lectures on the correlation of the functions of the body, Lancet, 2, 339 Liljestrand Freeman, 2001, A brief history of testosterone, J Urol, 165, 371, 10.1097/00005392-200102000-00004 Kendall, 1950, The development of cortisone as a therapeutic agent Reichstein Wintersteiner, 1936, Chemical studies on the adrenal cortex, J Biol Chem, 116, 291, 10.1016/S0021-9258(18)74684-X Julian, 1950, Sterols. XI. 17α-hydroxy-11-desoxycorticosterone (Reichstein's substance S), J Am Chem Soc, 72, 5145, 10.1021/ja01167a094 Reichstein, 1943, The hormones of the adrenal cortex, Vitam Horm, 1, 345, 10.1016/S0083-6729(08)60260-5 IUPAC-IUB Joint commission on biochemical nomenclature (JCBN), 1989, The nomenclature of steroids, Eur J Biochem, 186, 429 IUPAC-IUB Joint commission on biochemical nomenclature (JCBN), 1989, The nomenclature of steroids, Pure Appl Chem, 61, 1783, 10.1351/pac198961101783 IUPAC-IUB Joint commission on biochemical nomenclature (JCBN) Haining, 2007, Cytochrome P450 reactions in the human brain, 43 Luu-The, 2013, Assessment of steroidogenesis and steroidogenic enzyme functions, J Steroid Biochem Mol Biol, 137, 176, 10.1016/j.jsbmb.2013.05.017 Griffin, 2010, Atlas of steroid structure volume 2: published online in 2010, 754 Carey, 2011, Adrenal disease update 2011, J Clin Endocrinol Metab, 96, 3583, 10.1210/jc.2011-2162 Greaves, 2004, Genital abnormalities mimicking congenital adrenal hyperplasia in premature infants, J Paediatr Child Health, 40, 233, 10.1111/j.1440-1754.2004.00345.x Greaves, 2006, 11β-hydroxylase deficiency masked by alternative medicines, J Paediatr Child Health, 42, 652, 10.1111/j.1440-1754.2006.00925.x Honour, 1997, Steroid profiling, Ann Clin Biochem, 34, 32, 10.1177/000456329703400106 Wudy, 2011, Mass spectrometry in the diagnosis of steroid-related disorders: clinical applications, 379 McNamara, 2013, Phase two steroid metabolism and its roles in breast and prostate cancer patients, Front Endocrinol, 4, 116, 10.3389/fendo.2013.00116 Andrew, 2001, Clinical measurement of steroid metabolism, Best Pract Res Clin Endocrinol Metab, 15, 1, 10.1053/beem.2001.0116 Auchus, 2010, 46, XX DSD: the masculinised female, Best Pract Res Clin Endocrinol Metab, 24, 219, 10.1016/j.beem.2009.11.001 Auchus, 2004, The alternative pathway to dihydrotestosterone, Trends Endocrinol Metab, 15, 432, 10.1016/S1043-2760(04)00214-0 Shackleton, 1985, Steroid synthesis and catabolism in the fetus and neonate, 441 Midgley, 2001, Plasma cortisol, cortisone and urinary glucocorticoid metabolites in preterm infants, Biol Neonate, 79, 79, 10.1159/000047071 Vermes, 1980, Maturation of the circadian rhythm of the adrenocortical functions in human neonates and infants, Horm Res, 12, 237, 10.1159/000179126 Midgley, 1996, Activity of the adrenal fetal zone in preterm infants continues to term, Endocr Res, 22, 729, 10.1080/07435809609043769 Rainey, 2004, The human fetal adrenal: making adrenal androgens for placental estrogens, Semin Reprod Med, 22, 327, 10.1055/s-2004-861549 Greaves, 2008, Transient anomalies in genital appearance in some extremely preterm female infants may be the result of foetal programming causing a surge in LH and the over activation of the pituitary-gonadal axis, Clin Endocrinol (Oxf), 69, 763, 10.1111/j.1365-2265.2008.03298.x Wilson, 2003, 5α-androstane-3α, 17β-diol is formed in tammar wallaby pouch young testes by a pathway involving 5α-prenane-3α, 17α-diol-20-one as a key intermediate, Endocrinology, 144, 575, 10.1210/en.2002-220721 Flück, 2011, Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual development, Am J Hum Genet, 89, 201, 10.1016/j.ajhg.2011.06.009 Biogiovanni, 1960, Urinary pregnanetriol. A practical determination in clinical medicine, Clin Endocrinol (Oxf), 1, 700 Rossi, 2010, Serum steroid profiling for congenital adrenal hyperplasia using liquid chromatography–tandem mass spectrometry, Clin Chim Acta, 411, 222, 10.1016/j.cca.2009.11.007 Jerjes, 2006, Circadian rhythm of urinary steroid metabolites, Ann Clin Chem, 43, 287 Caulfield, 2002, The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens, J Clin Endocrinol Metab, 87, 3682, 10.1210/jcem.87.8.8712 Verras, 2005, Abnormal laboratory results: important issues to consider in the interpretation of paediatric biochemistry, Aust Prescr, 28, 126, 10.18773/austprescr.2005.096 Poomthavorn, 2006, Paper blotter urine steroid profiles by tandem mass spectrometry: a new method for the investigation of 21-hydroxylase deficiency, 27, S20 Abraham, 1975, Combined radioimmunoassay of four steroids in one ml plasma: II. Androgens, Clin Biochem, 8, 374, 10.1016/S0009-9120(75)93886-2 Pazzagli, 1975, Radioimmunoassay of plasma dihydrotestosterone in normal and hypogonadal men, Clin Endocrinol, 4, 513, 10.1111/j.1365-2265.1975.tb01562.x Tateishi, 1980, Non-chromatographic radioimmunoassay for testosterone and 5α-dihydrotestosterone in adult female serum using antisera with low cross-reactivities, J Steroid Biochem, 13, 869, 10.1016/0022-4731(80)90159-4 Schöneshöfer, 1981, A convenient and efficient method for the extraction and fractionation of steroid hormones from serum or urine, J Clin Chem Clin Biochem, 19, 71 Pitt, 2009, Principles and applications of liquid chromatography–mass spectrometry in clinical biochemistry, Clin Biochem Rev, 30, 19 Greaves, 2012, A guide to harmonisation and standardisation of measurands determined by liquid chromatography–tandem mass spectrometry in routine clinical biochemistry, Clin Biochem Rev, 33, 123 Shiraishi, 2008, Simultaneous measurement of serum testosterone and dihydrotestosterone by liquid chromatography–tandem mass spectrometry, Clin Chem, 54, 1855, 10.1373/clinchem.2008.103846 Wang, 2008, Validation of a testosterone and dihydrotestosterone liquid chromatography tandem mass spectrometry assay: interference and comparison with established methods, Steroids, 73, 1345, 10.1016/j.steroids.2008.05.004 Kulle, 2011, A novel ultrapressure liquid chromatography tandem mass spectrometry method for the simultaneous determination of androstenedione, testosterone, and dihydrotestosterone in pediatric blood samples: age and sex specific data, J Clin Endocrinol Metab, 95, 2399, 10.1210/jc.2009-1670 Licea-Perez, 2008, Development of a highly sensitive and selective UPLC/MS/MS method for the simultaneous determination of testosterone and 5-dihydrotestosterone in human serum to support testosterone replacement therapy for hypogonadism, Steroids, 73, 601, 10.1016/j.steroids.2008.01.018 Honour, 2011, Development and validation of a quantitative assay based on tandem mass spectrometry, Ann Clin Biochem, 48, 97, 10.1258/acb.2010.010176 Asian and Pacific Federation of Clinical Biochemists Greaves, 2014, Establishment of a common calibrator for mass spectrometry analysis of serum testosterone (Abstract — oral communication), 52, Special Suppl, S180 Martin-Roussety, 2012 Clarke, 2013, Optimized 25-hydroxyvitamin D analysis using liquid–liquid extraction with 2D separation with LC/MS/MS detection, provides superior precision compared to conventional assays, Metabolomics, 9, 1031, 10.1007/s11306-013-0518-9 Starka, 2003, Epitestosterone, J Steroid Biochem Mol Biol, 87, 27, 10.1016/S0960-0760(03)00383-2 Weykamp, 1989, Steroid Profile for Urine: Reference Values, Clin Chem, 35, 2281, 10.1093/clinchem/35.12.2281 Homma, 2003, Reference values for urinary steroids in Japanese newborn infants: gas chromatography/mass spectrometry in selected ion monitoring, Endocr J, 50, 783, 10.1507/endocrj.50.783 Greaves, 2011, Serum Hormone Profiles over the first six weeks of life for preterm infants born less than 30weeks gestation, 44, 531 Greaves, 2008, LH and FSH Levels in Extreme Prematurity: Development of Reference Intervals, Pediatrics, 121, e574, 10.1542/peds.2007-1327 Fluck, 2011, Assessing the Function of the Adrenal Cortex, 350 Remer, 2005, Urinary markers of adrenarche: reference values in healthy subjects, aged 3–18 years, J Clin Endocrinol Metab, 90, 2015, 10.1210/jc.2004-1571 Greaves, 2014, Establishment of hormone reference intervals for infants born <30weeks' gestation, Clin Biochem, 47, 101, 10.1016/j.clinbiochem.2014.06.002 Greaves, 2014, Hormone profiles in extremely preterm infants, Clin Biochem, 47, 744, 10.1016/j.clinbiochem.2014.05.040 New, 2014, Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma, J Clin Endocrinol Metab, 99, 1118-, 10.1210/jc.2014-1118 Kamrath, 2012, Increased activation of the alternative “backdoor” pathway in patients with 21-hydroxylase deficiency: evidence from urinary steroid hormone analysis, J Clin Endocrinol Metab, 97, E367, 10.1210/jc.2011-1997 Miller, 2011, The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders, Endocr Rev, 32, 81, 10.1210/er.2010-0013 Wudy, 2007, Sexual dimorphism in cortisol secretion starts after age 10 in healthy children: urinary cortisol excretion rates during growth, Am J Physiol Endocrinol Metab, 293, E970, 10.1152/ajpendo.00495.2006 Arlt, 2002, Molecular evolution of adrenarche: structural and functional analysis of p450c17 from four primate species, Endocrinology, 143, 4665, 10.1210/en.2002-220456 Topor, 2011, Cortisol stimulates secretion of dehydroepiandrosterone in human adrenocortical cells through inhibition of 3βHSD2, J Clin Endocrinol Metab, 96, E31, 10.1210/jc.2010-0692 Marshall, 1969, Variations in pattern of pubertal changes in girls, Arch Dis Child, 44, 291, 10.1136/adc.44.235.291 Marshall, 1970, Variations in the pattern of pubertal changes in boys, Arch Dis Child, 45, 13, 10.1136/adc.45.239.13 Midgley, 1990, Virilisation of female preterm infants, Arch Dis Child, 65, 701, 10.1136/adc.65.7_Spec_No.701 Wilkins, 1950, The suppression of androgen secretion by cortisone in a case of congenital adrenal hyperplasia, 86, 249 Nordenström, 2005, Female preponderance in congenital adrenal hyperplasia due to CYP21 deficiency in England: implications for neonatal screening, Horm Res, 63, 22 Riepe, 2007, Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Rev Endocr Metab Disord, 8, 349, 10.1007/s11154-007-9053-1 Wilson, 2007, Ethnic Specific Distribution of Mutations in 716 Patients with Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency, Mol Genet Metab, 90, 414, 10.1016/j.ymgme.2006.12.005 Speiser, 2010, Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline, J Clin Endocrinol Metab, 95, 4133, 10.1210/jc.2009-2631 Gozzi, 2005, Autopsy diagnosis of 21-hydroxylase deficiency CAH in a case of apparent SIDS, Pediatr Dev Pathol, 8, 397, 10.1007/s10024-005-0004-0 Nguyen, 2006, Growth in Congenital Adrenal Hyperplasia, Indian J Pediatr, 73, 89, 10.1007/BF02758268 Merke, 2002, Future Directions in the Study and Management of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency, Ann Intern Med, 136, 320, 10.7326/0003-4819-136-4-200202190-00012 Merke, 2008, Approach to the Adult with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency, J Clin Endocrinol Metab, 93, 653, 10.1210/jc.2007-2417 Christakoudi, 2013, Steroids excreted in urine by neonates with 21-hydroxylase deficiency. 4. Characterization, using GC–MS and GC–MS/MS, of 11oxo-pregnanes and 11oxo-pregnenes, Steroids, 78, 468, 10.1016/j.steroids.2013.02.008 Zhu, 2009, 5alpha-reductase isozymes and androgen actions in the prostate, Ann N Y Acad Sci, 1155, 43, 10.1111/j.1749-6632.2009.04115.x Mieszczak, 2009, Assignment of the sex of rearing in the neonate with a disorder of sex development, Curr Opin Pediatr, 21, 541, 10.1097/MOP.0b013e32832c6d2c Lavery, 2008, Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency, J Clin Endocrinol Metab, 93, 3827, 10.1210/jc.2008-0743 Biason-Lauber, 2000, Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism, Horm Res, 53, 260 Jamieson, 1999, Apparent cortisone reductase deficiency: a functional defect in 11beta-hydroxysteroid dehydrogenase type 1, J Clin Endocrinol Metab, 84, 3570 Lawson, 2011, Cortisone-reductase deficiency associated with heterozygous mutations in 11β-hydroxysteroid dehydrogenase type 1, Proc Natl Acad Sci, 108, 4111, 10.1073/pnas.1014934108 Shi, 2010, Am J Physiol Endocrinol Metab, 299, E990, 10.1152/ajpendo.00374.2010 Ibanez, 2000, Premature adrenarche: normal variant or forerunner of adult disease?, Endocr Rev, 21, 671 Tsilchorozidou, 2003, Altered cortisol metabolism in polycystic ovary syndrome: insulin enhances 5α-reduction but not the elevated adrenal steroid production rates, J Clin Endocrinol Metab, 88, 5907, 10.1210/jc.2003-030240