Impact on bone of an estrogen receptor-α gene loss of function mutation

Journal of Clinical Endocrinology and Metabolism

Volumn 93, Issue 8, 2008, Pages 3088-3096

  Smith, Eric P ^a   Specker, Bonny ^b   Bachrach, Bert E ^a   Kimbro, K S ^c,d   Li, X J ^e   Young, Marian F ^f   Fedarko, Neal S ^g   Abuzzahab, M J ^a   Frank, Graeme R ^h   Cohen, Robert M ^a   Lubahn, Dennis B ⁱ   Korach, Kenneth S ^c  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^b SOUTH DAKOTA STATE UNIVERSITY   (United States)

^c NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES   (United States)

^d EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e PFIZER INC   (United States)

^f NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

^g JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h SCHNEIDER CHILDREN'S HOSPITAL   (United States)

ⁱ UNIVERSITY OF MISSOURI   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ESTROGEN RECEPTOR ALPHA;

ARTICLE; BODY HEIGHT; BONE; BONE AGE; BONE DENSITY; BONE GROWTH; BONE MARROW BIOPSY; BONE MINERAL; COMPUTER ASSISTED TOMOGRAPHY; CORTICAL BONE; DUAL ENERGY X RAY ABSORPTIOMETRY; FOLLOW UP; GENE FUNCTION; GENE LOSS; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; LONGITUDINAL STUDY; MORPHOMETRICS; OSTEOPENIA; PEDIGREE ANALYSIS; PERIOSTEUM; PRIORITY JOURNAL; SPINE; TRABECULAR BONE; VOLUMETRY;

EID: 49249120116     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2007-2397     Document Type: Article

References (40)

1. Lubahn DB, Moyer JS, Golding TS, Couse JF, Korach KS, Smithies O 1993 Alteration of reproductive function but not prenatal sexual development after insertional disruption of the mouse estrogen receptor gene. Proc Natl Acad Sci USA 90:11162-11166
2. Morishima A, Grumbach MM, Simpson ER, Fisher C, Qin K 1995 Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. J Clin Endocrinol Metab 80:3689-3698
3. Smith EP, Boyd J, Frank GR, Takahashi H, Cohen RM, Specker B, Williams TC, Lubahn DB, Korach KS 1994 Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. N Engl J Med 331:1056-1061
4. Deroo BJ, Korach KS 2006 Estrogen receptors and human disease. J Clin Invest 116:561-570
5. Kuiper GG, Enmark E, Pelto-Huikko M, Nilsson S, Gustafsson JA 1996 Cloning of a novel receptor expressed in rat prostate and ovary. Proc Natl Acad Sci USA 93:5925-5930
6. Seeman E, Bianchi G, Khosla S, Kanis JA, Orwoll E 2006 Bone fragility in men - where are we? Osteoporos Int 17:1577-1583
7. Herrmann BL, Janssen OE, Hahn S, Broecker-Preuss M, Mann K 2005 Effects of estrogen replacement therapy on bone and glucose metabolism in a male with congenital aromatase deficiency. Horm Metab Res 37:178-183
8. Carani C, Qin K, Simoni M, Faustini-Fustini M, Serpente S, Boyd J, Korach KS, Simpson ER 1997 Effect of testosterone and estradiol in a man with aromatase deficiency. N Engl J Med 337:91-95
9. Bilezikian JP, Morishima A, Bell J, Grumbach MM 1998 Increased bone mass as a result of estrogen therapy in a man with aromatase deficiency. N Engl J Med 339:599-603
10. Maffei L, Murata Y, Rochira V, Tubert G, Aranda C, Vazquez M, Clyne CD, Davis S, Simpson ER, Carani C 2004 Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment. J Clin Endocrinol Metab 89:61-70
11. Bouillon R, Bex M, Vanderschueren D, Boonen S 2004 Estrogens are essential for male pubertal periosteal bone expansion. J Clin Endocrinol Metab 89:6025-6029
12. Rochira V, Zirilli L, Madeo B, Aranda C, Caffagni G, Fabre B, Montangero VE, Roldan EJ, Maffei L, Carani C 2007 Skeletal effects of long-term estrogen and testosterone replacement treatment in a man with congenital aromatase deficiency: evidences of a priming effect of estrogen for sex steroids action on bone. Bone 40:1662-1668
13. Gennari L, De Paola, V, Merlotti D, Martini G, Nuti R 2007 Steroid hormone receptor gene polymorphisms and osteoporosis: a pharmacogenomic review. Expert Opin Pharmacother 8:537-553
14. Dieudonne SC, Xu T, Chou JY, Kuznetsov SA, Satomura K, Mankani M, Fedarko NS, Smith EP, Robey PG, Young MF 1998 Immortalization and characterization of bone marrow stromal fibroblasts from a patient with a loss of function mutation in the estrogen receptor-α gene. J Bone Miner Res 13:598-608
15. Parfitt AM, Drezner MK, Glorieux FH, Kanis JA, Malluche H, Meunier PJ, Ott SM, Recker RR 1987 Bone histomorphometry: standardization of nomenclature, symbols, and units. Report of the ASBMR Histomorphometry Nomenclature Committee. J Bone Miner Res 2:595-610
16. Specker B, Binkley L, Fahrenwald N 2004 Rural vs. non-rural differences in BMC, volumetric BMD, and bone size: a population-based cross-sectional study. Bone 35:1389-1398
17. Greulich WW, Pyle SI, Waterhouse AM 1971 A radiographic standard of reference for the growing hand and wrist. Chicago: Press of Case Western Reserve University
18. Blin N, Stafford DW 1976 A general method for isolation of high molecular weight DNA from eukaryotes. Nucleic Acids Res 3:2303-2308
19. Nilsson O, Marino R, De LF, Phillip M, Baron J 2005 Endocrine regulation of the growth plate. Horm Res 64:157-165
20. Maffei L, Rochira V, Zirilli L, Antunez P, Aranda C, Fabre B, Simone ML, Pignatti E, Simpson ER, Houssami S, Clyne CD, Carani C 2007 A novel compound heterozygous mutation of the aromatase gene in an adult man: reinforced evidence on the relationship between congenital oestrogen deficiency, adiposity and the metabolic syndrome. Clin Endocrinol (Oxf) 67:218-224
21. Dunkel L 2006 Use of aromatase inhibitors to increase final height. Mol Cell Endocrinol 254-255:207-216
22. Brockstedt H, Kassem M, Eriksen EF, Mosekilde L, Melsen F 1993 Age- and sex-related changes in iliac cortical bone mass and remodeling. Bone 14:681-691
23. Venken K, De Gendt K, Boonen S, Ophoff J, Bouillon R, Swinnen JV, Verhoeven G, Vanderschueren D 2006 Relative impact of androgen and estrogen receptor activation in the effects of androgens on trabecular and cortical bone in growing male mice: a study in the androgen receptor knockout mouse model. J Bone Miner Res 21:576-585
24. Vanderschueren D, Venken K, Ophoff J, Bouillon R, Boonen S 2006 Clinical review: sex steroids and the periosteum - reconsidering the roles of androgens and estrogens in periosteal expansion. J Clin Endocrinol Metab 91:378-382
25. Falahati-Nini A, Riggs BL, Atkinson EJ, O'Fallon WM, Eastell R, Khosla S 2000 Relative contributions of testosterone and estrogen in regulating bone resorption and formation in normal elderly men. J Clin Invest 106:1553-1560
26. Specker BL 2006 Influence of rapid growth on skeletal adaptation to exercise. J Musculoskelet Neuronal Interact 6:147-153
27. Mosekilde L 1989 Sex differences in age-related loss of vertebral trabecular bone mass and structure- biomechanical consequences. Bone 10:425-432
28. Sims NA, Dupont S, Krust A, Clement-Lacroix P, Minet D, Resche-Rigon M, Gaillard-Kelly M, Baron R 2002 Deletion of estrogen receptors reveals a regulatory role for estrogen receptors-β in bone remodeling in females but not in males. Bone 30:18-25
29. Marcus R, Leary D, Schneider DL, Shane E, Favus M, Quigley CA 2000 The contribution of testosterone to skeletal development and maintenance: lessons from the androgen insensitivity syndrome. J Clin Endocrinol Metab 85:1032-1037
30. Castelo-Branco C, Vicente JJ, Figueras F, Sanjuan A, Martinez de Osaba MJ, Casals E, Pons F, Balasch J, Vanrell JA 2000 Comparative effects of estrogens plus androgens and tibolone on bone, lipid pattern and sexuality in postmenopausal women. Maturitas 34:161-168
31. Raisz LG, Wiita B, Artis A, Bowen A, Schwartz S, Trahiotis M, Shoukri K, Smith J 1996 Comparison of the effects of estrogen alone and estrogen plus androgen on biochemical markers of bone formation and resorption in postmenopausal women. J Clin Endocrinol Metab 81:37-43
32. Swope DL, Castranio T, Harrell JC, Mishina Y, Korach KS 2002 AF-2 knock-in mutation of estrogen receptor α: Cre-loxP excision of a PGK-neo cassette from the 3′ UTR. Genesis 32:99-101
33. Ioannidis JP, Ng MY, Sham PC, Zintzaras E, Lewis CM, Deng HW, Econs MJ, Karasik D, Devoto M, Kammerer CM, Spector T, Andrew T, Cupples LA, Duncan EL, Foroud T, Kiel DP, Koller D, Langdahl B, Mitchell BD, Peacock M, Recker R, Shen H, Sol-Church K, Spotila LD, Uitterlinden AG, Wilson SG, Kung AW, Ralston SH 2007 Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass. J Bone Miner Res 22:173-183
34. Schnitzler CM, Pettifor JM, Mesquita JM, Bird MD, Schnaid E, Smyth AE 1990 Histomorphometry of iliac crest bone in 346 normal black and white South African adults. Bone Miner 10:183-199
35. Glorieux FH, Travers R, Taylor A, Bowen JR, Rauch F, Norman M, Parfitt AM 2000 Normative data for iliac bone histomorphometry in growing children. Bone 26:103-109
36. Jackson JA, Kleerekoper M, Parfitt AM, Rao DS, Villanueva AR, Frame B 1987 Bone histomorphometry in hypogonadal and eugonadal men with spinal osteoporosis. J Clin Endocrinol Metab 65:53-58
37. Mullender MG, Tan SD, Vico L, Alexandre C, Klein-Nulend J 2005 Differences in osteocyte density and bone histomorphometry between men and women and between healthy and osteoporotic subjects. Calcif Tissue Int 77:291-296
38. Kimmel DB, Recker RR, Gallagher JC, Vaswani AS, Aloia JF 1990 A comparison of iliac bone histomorphometric data in post-menopausal osteoporotic and normal subjects. Bone Miner 11:217-235
39. Steiniche T, Vesterby A, Eriksen EF, Mosekilde L, Melsen F 1986 A histomorphometric determination of iliac bone structure and remodeling in obese subjects. Bone 7:77-82
40. Clarke BL, Ebeling PR, Jones JD, Wahner HW, O'Fallon WM, Riggs BL, Fitzpatrick LA 1996 Changes in quantitative bone histomorphometry in aging healthy men. J Clin Endocrinol Metab 81:2264-2270