Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 93, Issue 10, 2008, Pages 3827-3832

  Lavery, Gareth G ^a   Walker, Elizabeth A ^a   Tiganescu, Ana ^a   Ride, Jon P ^a   Shackleton, Cedric H L ^a   Tomlinson, Jeremy W ^a   Connell, John M C ^b   Ray, David W ^c   Biason Lauber, Anna ^d   Malunowicz, Ewa M ^e   Arlt, Wiebke ^a   Stewart, Paul M ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b UNIVERSITY OF GLASGOW   (United Kingdom)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^e CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

3ALPHA(OR 20BETA) HYDROXYSTEROID DEHYDROGENASE; GLUCOSE 6 PHOSPHATE DEHYDROGENASE;

ADULT; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; CORTISONE REDUCTASE DEFICIENCY; ENZYME ACTIVITY; ENZYME DEFICIENCY; GAS CHROMATOGRAPHY; GENE MUTATION; HUMAN; HYPERANDROGENISM; MALE; MASS SPECTROMETRY; PRIORITY JOURNAL; PROTEIN EXPRESSION; STEROID URINE LEVEL;

ADULT; ALOPECIA; BIOLOGICAL MARKERS; CARBOHYDRATE DEHYDROGENASES; CHILD; CORTISONE REDUCTASE; DNA MUTATIONAL ANALYSIS; FEMALE; HIRSUTISM; HUMANS; MALE; METABOLIC DISEASES; MIDDLE AGED; MODELS, BIOLOGICAL; MUTATION; PEDIGREE; PUBERTY, PRECOCIOUS; STEROIDS;

EID: 53749101646     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2008-0743     Document Type: Article

References (27)

1. Tomlinson JW, Walker EA, Bujalska IJ, Draper N, Lavery GG, Cooper MS, Hewison M, Stewart PM 2004 11β-Hydroxysteroid dehydrogenase type 1: a tissue-specific regulator of glucocorticoid response. Endocr Rev 25:831-866
2. Biason-Lauber A, Suter SL, Shackleton CH, Zachmann M 2000 Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism. Horm Res 53:260-266
3. Draper N, Walker EA, Bujalska IJ, Tomlinson JW, Chalder SM, Arlt W, Lavery GG, Bedendo O, Ray DW, Laing I, Malunowicz E, White PC, Hewison M, Mason PJ, Connell JM, Shackleton CH, Stewart PM 2003 Mutations in the genes encoding 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. Nat Genet 34:434-439
4. Jamieson A, Wallace AM, Andrew R, Nunez BS, Walker BR, Fraser R, White PC, Connell JM 1999 Apparent cortisone reductase deficiency: a functional defect in 11β-hydroxysteroid dehydrogenase type 1. J Clin Endocrinol Metab 84:3570-3574
5. Malunowicz EM, Romer TE, Urban M, Bossowski A 2003 11β-Hydroxysteroid dehydrogenase type 1 deficiency ('apparent cortisone reductase deficiency') in a 6-year-old boy. Horm Res 59:205-210
6. Nikkila H, Tannin GM, New MI, Taylor NF, Kalaitzoglou G, Monder C, White PC 1993 Defects in the HSD11 gene encoding 11β-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency. J Clin Endocrinol Metab 77:687-691
7. Phillipov G, Palermo M, Shackleton CH 1996 Apparent cortisone reductase deficiency: a unique form of hypercortisolism. J Clin Endocrinol Metab 81: 3855-3860
8. White PC, Rogoff D, McMillan DR, Lavery GG 2007 Hexose 6-phosphate dehydrogenase (H6PD) and corticosteroid metabolism. Mol Cell Endocrinol 265-266:89-92
9. Lavery GG, Walker EA, Draper N, Jeyasuria P, Marcos J, Shackleton CH, Parker KL, White PC, Stewart PM 2006 Hexose-6-phosphate dehydrogenase knock-out mice lack 11β-hydroxysteroid dehydrogenase type 1-mediated glucocorticoid generation. J Biol Chem 281:6546-6551
10. Kotelevtsev Y, Holmes MC, Burchell A, Houston PM, Schmoll D, Jamieson P, Best R, Brown R, Edwards CR, Seckl JR, Mullins JJ 1997 11β-Hydroxysteroid dehydrogenase type 1 knockout mice show attenuated glucocorticoid-inducible responses and resist hyperglycemia on obesity or stress. Proc Natl Acad Sci USA 94:14924-14929
11. Draper N, Powell BL, Franks S, Conway GS, Stewart PM, McCarthy MI 2006 Variants implicated in cortisone reductase deficiency do not contribute to susceptibility tocommonforms of polycystic ovary syndrome. Clin Endocrinol (Oxf) 65:64-70
12. Smit P, Dekker MJ, de Jong FJ, van den Beld AW, Koper JW, Pols HA, Brinkmann AO, de Jong FH, Breteler MM, Lamberts SW 2007 Lack of association of the 11β-hydroxysteroid dehydrogenase type 1 gene 83,557insA and hexose-6-phosphate dehydrogenase gene R453Q polymorphisms with body composition, adrenal androgen production, blood pressure, glucose metabolism, and dementia. J Clin Endocrinol Metab 92:359-362
13. White PC 2005 Genotypes at 11β-hydroxysteroid dehydrogenase type 11B1 and hexose-6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based sample. J Clin Endocrinol Metab 90:5880-5883
14. Shackleton CH 1993 Mass spectrometry in the diagnosis of steroid-related disorders and in hypertension research. J Steroid Biochem Mol Biol 45: 127-140
15. Esteban NV, Loughlin T, Yergey AL, Zawadzki JK, Booth JD, Winterer JC, Loriaux DL 1991 Daily cortisol production rate in man determined by stable isotope dilution/mass spectrometry. J Clin Endocrinol Metab 72:39-45
16. Zumoff B, Fukushima DK, Hellman L 1974 Intercomparison of four methods for measuring cortisol production. J Clin Endocrinol Metab 38:169-175
17. Atanasov AG, Nashev LG, Schweizer RA, Frick C, Odermatt A 2004 Hexose-6-phosphate dehydrogenase determines the reaction direction of 11β-hydroxysteroid dehydrogenase type 1 as an oxoreductase. FEBS Lett 571:129-133
18. Banhegyi G, Benedetti A, Fulceri R, Senesi S 2004 Cooperativity between 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase in the lumen of the endoplasmic reticulum. J Biol Chem 279:27017-27021
19. Bujalska IJ, Draper N, Michailidou Z, Tomlinson JW, White PC, Chapman KE, Walker EA, Stewart PM 2005 Hexose-6-phosphate dehydrogenase confers oxo-reductase activity upon 11β-hydroxysteroid dehydrogenase type 1. J Mol Endocrinol 34:675-684
20. Bujalska IJ, Kumar S, Hewison M, Stewart PM 1999 Differentiation of adipose stromal cells: the roles of glucocorticoids and 11β- hydroxysteroid dehydrogenase. Endocrinology 140:3188-3196
21. Lavery GG, Walker EA, Turan N, Rogoff D, Ryder JW, Shelton JM, Richardson JA, Falciani F, White PC, Stewart PM, Parker KL, McMillan DR 2008 Deletion of hexose-6-phosphate dehydrogenase activates the unfolded protein response pathway and induces skeletal myopathy. J Biol Chem 283:8453-8461
22. Escobar-Morreale HF, Luque-Ramirez M, San Millan JL 2005 The molecular-genetic basis of functional hyperandrogenism and the polycystic ovary syndrome. Endocr Rev 26:251-282
23. Franks S 1995 Polycystic ovary syndrome. N Engl J Med 333:853-861
24. Goodarzi MO, Azziz R 2006 Diagnosis, epidemiology, and genetics of the polycystic ovary syndrome. Best Pract Res Clin Endocrinol Metab 20:193-205
25. Alberts P, Nilsson C, Selen G, Engblom LO, Edling NH, Norling S, Klingstrom G, Larsson C, Forsgren M, Ashkzari M, Nilsson CE, Fiedler M, Bergqvist E, Ohman B, Bjorkstrand E, Abrahmsen LB 2003 Selective inhibition of 11β-hydroxysteroid dehydrogenase type 1 improves hepatic insulin sensitivity in hyperglycemic mice strains. Endocrinology 144:4755-4762
26. Morton NM, Paterson JM, Masuzaki H, Holmes MC, Staels B, Fievet C, Walker BR, Flier JS, Mullins JJ, Seckl JR 2004 Novel adipose tissue-mediated resistance to diet-induced visceral obesity in 11β-hydroxysteroid dehydrogenase type 1-deficient mice. Diabetes 53:931-938
27. Tomlinson JW, Stewart PM 2005 Mechanisms of disease: Selective inhibition of 11β-hydroxysteroid dehydrogenase type 1 as a novel treatment for the metabolic syndrome. Nat Clin Pract Endocrinol Metab 1:92-99