FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 331:1056-1061 October 20, 1994 Number 16 Next

	Full Text Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited Related Article PubMed Citation

ABSTRACT

Background and Methods Mutations in the estrogen-receptor gene have been thought to be lethal. A 28-year-old man whose estrogen resistance was caused by a disruptive mutation in the estrogen-receptor gene underwent studies of pituitary-gonadal function and bone density and received transdermal estrogen for six months. Estrogen-receptor DNA, extracted from lymphocytes, was evaluated by analysis of single-strand-conformation polymorphisms and by direct sequencing.

Results The patient was tall (204 cm [80.3 in.]) and had incomplete epiphyseal closure, with a history of continued linear growth into adulthood despite otherwise normal pubertal development. He was normally masculinized and had bilateral axillary acanthosis nigricans. Serum estradiol and estrone concentrations were elevated, and serum testosterone concentrations were normal. Serum follicle-stimulating hormone and luteinizing hormone concentrations were increased. Glucose tolerance was impaired, and hyperinsulinemia was present. The bone mineral density of the lumbar spine was 0.745 g per square centimeter, 3.1 SD below the mean for age-matched normal women; there was biochemical evidence of increased bone turnover.

The patient had no detectable response to estrogen administration, despite a 10-fold increase in the serum free estradiol concentration. Conformation analysis of his estrogen-receptor gene revealed a variant banding pattern in exon 2. Direct sequencing of exon 2 revealed a cytosine-to-thymine transition at codon 157 of both alleles, resulting in a premature stop codon. The patient's parents were heterozygous carriers of this mutation, and pedigree analysis revealed consanguinity.

Conclusions Disruption of the estrogen receptor in humans need not be lethal. Estrogen is important for bone maturation and mineralization in men as well as women.

Source Information

From the Department of Pediatrics, Divisions of Endocrinology (E.P.S., G.R.F.) and Neonatology (B.S.), Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati; the Department of Internal Medicine, Division of Endocrinology, University of Cincinnati College of Medicine, Cincinnati (R.M.C., T.C.W.); the Departments of Pediatrics and Pathology, University of North Carolina School of Medicine at Chapel Hill, Chapel Hill (D.B.L.); and the Gynecologic Pathobiology Group, Laboratory of Molecular Carcinogenesis (J.B., H.T.), and Receptor Biology Section, Laboratory and Developmental Toxicology (K.S.K.), National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, N.C.

Address reprint requests to Dr. Smith at the Department of Pediatrics, Division of Endocrinology, Children's Hospital Medical Center, 3333 Burnett Ave., Cincinnati, OH 45229.

Full Text of this Article

This article has been cited by other articles:

• Burnett-Bowie, S.-A. M., McKay, E. A., Lee, H., Leder, B. Z. (2009). Effects of Aromatase Inhibition on Bone Mineral Density and Bone Turnover in Older Men with Low Testosterone Levels. J. Clin. Endocrinol. Metab. 94: 4785-4792 [Abstract] [Full Text]  
• Olofsson, L. E., Pierce, A. A., Xu, A. W. (2009). Functional requirement of AgRP and NPY neurons in ovarian cycle-dependent regulation of food intake. Proc. Natl. Acad. Sci. USA 106: 15932-15937 [Abstract] [Full Text]  
• Baniwal, S. K., Khalid, O., Sir, D., Buchanan, G., Coetzee, G. A., Frenkel, B. (2009). Repression of Runx2 by Androgen Receptor (AR) in Osteoblasts and Prostate Cancer Cells: AR Binds Runx2 and Abrogates Its Recruitment to DNA. Mol. Endocrinol. 23: 1203-1214 [Abstract] [Full Text]  
• Albrecht, E. D., Lane, M. V., Marshall, G. R., Merchenthaler, I., Simorangkir, D. R., Pohl, C. R., Plant, T. M., Pepe, G. J. (2009). Estrogen Promotes Germ Cell and Seminiferous Tubule Development in the Baboon Fetal Testis. Biol. Reprod. 81: 406-414 [Abstract] [Full Text]  
• Ribeiro, R. S., Abucham, J. (2009). Recovery of persistent hypogonadism by clomiphene in males with prolactinomas under dopamine agonist treatment. Eur J Endocrinol 161: 163-169 [Abstract] [Full Text]  
• Tivesten, A., Vandenput, L., Labrie, F., Karlsson, M. K., Ljunggren, O., Mellstrom, D., Ohlsson, C. (2009). Low Serum Testosterone and Estradiol Predict Mortality in Elderly Men. J. Clin. Endocrinol. Metab. 94: 2482-2488 [Abstract] [Full Text]  
• Barros, R. P. A., Gabbi, C., Morani, A., Warner, M., Gustafsson, J.-A. (2009). Participation of ER{alpha} and ER{beta} in glucose homeostasis in skeletal muscle and white adipose tissue. Am. J. Physiol. Endocrinol. Metab. 297: E124-E133 [Abstract] [Full Text]  
• Ohlsson, C., Vandenput, L. (2009). The role of estrogens for male bone health. Eur J Endocrinol 160: 883-889 [Abstract] [Full Text]  
• Teplyuk, N. M., Zhang, Y., Lou, Y., Hawse, J. R., Hassan, M. Q., Teplyuk, V. I., Pratap, J., Galindo, M., Stein, J. L., Stein, G. S., Lian, J. B., van Wijnen, A. J. (2009). The Osteogenic Transcription Factor Runx2 Controls Genes Involved in Sterol/Steroid Metabolism, Including Cyp11a1 in Osteoblasts. Mol. Endocrinol. 23: 849-861 [Abstract] [Full Text]  
• Sinkevicius, K. W., Laine, M., Lotan, T. L., Woloszyn, K., Richburg, J. H., Greene, G. L. (2009). Estrogen-Dependent and -Independent Estrogen Receptor-{alpha} Signaling Separately Regulate Male Fertility. Endocrinology 150: 2898-2905 [Abstract] [Full Text]  
• Allen, D. B., Kappy, M., Diekema, D., Fost, N. (2009). Growth-Attenuation Therapy: Principles for Practice. Pediatrics 123: 1556-1561 [Abstract] [Full Text]  
• Riant, E., Waget, A., Cogo, H., Arnal, J.-F., Burcelin, R., Gourdy, P. (2009). Estrogens Protect against High-Fat Diet-Induced Insulin Resistance and Glucose Intolerance in Mice. Endocrinology 150: 2109-2117 [Abstract] [Full Text]  
• Eriksson, A. L., Lorentzon, M., Vandenput, L., Labrie, F., Lindersson, M., Syvanen, A.-C., Orwoll, E. S., Cummings, S. R., Zmuda, J. M., Ljunggren, O., Karlsson, M. K., Mellstrom, D., Ohlsson, C. (2009). Genetic Variations in Sex Steroid-Related Genes as Predictors of Serum Estrogen Levels in Men. J. Clin. Endocrinol. Metab. 94: 1033-1041 [Abstract] [Full Text]  
• Han, Y., Feng, H. L., Sandlow, J. I., Haines, C. J. (2009). Comparing Expression of Progesterone and Estrogen Receptors in Testicular Tissue From Men With Obstructive and Nonobstructive Azoospermia. J Androl 30: 127-133 [Abstract] [Full Text]  
• Windahl, S. H., Andersson, N., Chagin, A. S., Martensson, U. E. A., Carlsten, H., Olde, B., Swanson, C., Moverare-Skrtic, S., Savendahl, L., Lagerquist, M. K., Leeb-Lundberg, L. M. F., Ohlsson, C. (2009). The role of the G protein-coupled receptor GPR30 in the effects of estrogen in ovariectomized mice. Am. J. Physiol. Endocrinol. Metab. 296: E490-E496 [Abstract] [Full Text]  
• Martensson, U. E. A., Salehi, S. A., Windahl, S., Gomez, M. F., Sward, K., Daszkiewicz-Nilsson, J., Wendt, A., Andersson, N., Hellstrand, P., Grande, P.-O., Owman, C., Rosen, C. J., Adamo, M. L., Lundquist, I., Rorsman, P., Nilsson, B.-O., Ohlsson, C., Olde, B., Leeb-Lundberg, L. M. F. (2009). Deletion of the G Protein-Coupled Receptor 30 Impairs Glucose Tolerance, Reduces Bone Growth, Increases Blood Pressure, and Eliminates Estradiol-Stimulated Insulin Release in Female Mice. Endocrinology 150: 687-698 [Abstract] [Full Text]  
• Callewaert, F., Venken, K., Ophoff, J., De Gendt, K., Torcasio, A., van Lenthe, G. H., Van Oosterwyck, H., Boonen, S., Bouillon, R., Verhoeven, G., Vanderschueren, D. (2009). Differential regulation of bone and body composition in male mice with combined inactivation of androgen and estrogen receptor-{alpha}. FASEB J. 23: 232-240 [Abstract] [Full Text]  
• Wu, W., Dave, N. B., Yu, G., Strollo, P. J., Kovkarova-Naumovski, E., Ryter, S. W., Reeves, S. R., Dayyat, E., Wang, Y., Choi, A. M. K., Gozal, D., Kaminski, N. (2008). Network analysis of temporal effects of intermittent and sustained hypoxia on rat lungs. Physiol. Genomics 36: 24-34 [Abstract] [Full Text]  
• Jankowski, C. M., Gozansky, W. S., Kittelson, J. M., Van Pelt, R. E., Schwartz, R. S., Kohrt, W. M. (2008). Increases in Bone Mineral Density in Response to Oral Dehydroepiandrosterone Replacement in Older Adults Appear to Be Mediated by Serum Estrogens. J. Clin. Endocrinol. Metab. 93: 4767-4773 [Abstract] [Full Text]  
• Wehkalampi, K., Widen, E., Laine, T., Palotie, A., Dunkel, L. (2008). Association of the Timing of Puberty with a Chromosome 2 Locus. J. Clin. Endocrinol. Metab. 93: 4833-4839 [Abstract] [Full Text]  
• Foresta, C., Zuccarello, D., Garolla, A., Ferlin, A. (2008). Role of Hormones, Genes, and Environment in Human Cryptorchidism. Endocr. Rev. 29: 560-580 [Abstract] [Full Text]  
• Smith, E. P., Specker, B., Bachrach, B. E., Kimbro, K. S., Li, X. J., Young, M. F., Fedarko, N. S., Abuzzahab, M. J., Frank, G. R., Cohen, R. M., Lubahn, D. B., Korach, K. S. (2008). Impact on Bone of an Estrogen Receptor-{alpha} Gene Loss of Function Mutation. J. Clin. Endocrinol. Metab. 93: 3088-3096 [Abstract] [Full Text]  
• Page, S. T., Amory, J. K., Bremner, W. J. (2008). Advances in Male Contraception. Endocr. Rev. 29: 465-493 [Abstract] [Full Text]  
• Khosla, S., Amin, S., Orwoll, E. (2008). Osteoporosis in Men. Endocr. Rev. 29: 441-464 [Abstract] [Full Text]  
• Miller, V. M., Duckles, S. P. (2008). Vascular Actions of Estrogens: Functional Implications. Pharmacol. Rev. 60: 210-241 [Abstract] [Full Text]  
• Moran, A., Jacobs, D. R. Jr, Steinberger, J., Steffen, L. M., Pankow, J. S., Hong, C.-P., Sinaiko, A. R. (2008). Changes in Insulin Resistance and Cardiovascular Risk During Adolescence: Establishment of Differential Risk in Males and Females. Circulation 117: 2361-2368 [Abstract] [Full Text]  
• Heino, T. J, Chagin, A. S, Savendahl, L. (2008). The novel estrogen receptor G-protein-coupled receptor 30 is expressed in human bone. J Endocrinol 197: R1-R6 [Abstract] [Full Text]  
• Ebeling, P. R. (2008). Osteoporosis in Men. NEJM 358: 1474-1482 [Full Text]  
• Venken, K., Bouillon, R., Vanderschueren, D. (2008). Androgens Versus Estrogens: Different Theories About Opposing Actions on Periosteal Bone Expansion. IBMS BoneKEy 5: 130-136 [Abstract] [Full Text]  
• Nissel, R., Lindberg, A., Mehls, O., Haffner, D., on behalf of the Pfizer International Growth Datab, (2008). Factors Predicting the Near-Final Height in Growth Hormone-Treated Children and Adolescents with Chronic Kidney Disease. J. Clin. Endocrinol. Metab. 93: 1359-1365 [Abstract] [Full Text]  
• Shulman, D. I., Francis, G. L., Palmert, M. R., Eugster, E. A., for the Lawson Wilkins Pediatric Endocrine Society, (2008). Use of Aromatase Inhibitors in Children and Adolescents With Disorders of Growth and Adolescent Development. Pediatrics 121: e975-e983 [Abstract] [Full Text]  
• Mauras, N., Gonzalez de Pijem, L., Hsiang, H. Y., Desrosiers, P., Rapaport, R., Schwartz, I. D., Klein, K. O., Singh, R. J., Miyamoto, A., Bishop, K. (2008). Anastrozole Increases Predicted Adult Height of Short Adolescent Males Treated with Growth Hormone: A Randomized, Placebo-Controlled, Multicenter Trial for One to Three Years. J. Clin. Endocrinol. Metab. 93: 823-831 [Abstract] [Full Text]  
• Hackam, D. G., Hackam, A. S. (2008). Translation of Genetic Discoveries into Clinical Therapies. ANN INTERN MED 148: 246-247 [Full Text]  
• Chagin, A. S., Savendahl, L. (2007). GPR30 Estrogen Receptor Expression in the Growth Plate Declines as Puberty Progresses. J. Clin. Endocrinol. Metab. 92: 4873-4877 [Abstract] [Full Text]  
• Windahl, S. H., Lagerquist, M. K., Andersson, N., Jochems, C., Kallkopf, A., Hakansson, C., Inzunza, J., Gustafsson, J.-A., van der Saag, P. T., Carlsten, H., Pettersson, K., Ohlsson, C. (2007). Identification of Target Cells for the Genomic Effects of Estrogens in Bone. Endocrinology 148: 5688-5695 [Abstract] [Full Text]  
• Yialamas, M. A., Dwyer, A. A., Hanley, E., Lee, H., Pitteloud, N., Hayes, F. J. (2007). Acute Sex Steroid Withdrawal Reduces Insulin Sensitivity in Healthy Men with Idiopathic Hypogonadotropic Hypogonadism. J. Clin. Endocrinol. Metab. 92: 4254-4259 [Abstract] [Full Text]  
• Khosla, S. (2007). Estrogen and the Death of Osteoclasts: A Fascinating Story. IBMS BoneKEy 4: 267-272 [Full Text]  
• Atteritano, M., Marini, H., Minutoli, L., Polito, F., Bitto, A., Altavilla, D., Mazzaferro, S., D'Anna, R., Cannata, M. L., Gaudio, A., Frisina, A., Frisina, N., Corrado, F., Cancellieri, F., Lubrano, C., Bonaiuto, M., Adamo, E. B., Squadrito, F. (2007). Effects of the Phytoestrogen Genistein on Some Predictors of Cardiovascular Risk in Osteopenic, Postmenopausal Women: A Two-Year Randomized, Double-Blind, Placebo-Controlled Study. J. Clin. Endocrinol. Metab. 92: 3068-3075 [Abstract] [Full Text]  
• Gallagher, C. J., Langefeld, C. D., Gordon, C. J., Campbell, J. K., Mychalecky, J. C., Bryer-Ash, M., Rich, S. S., Bowden, D. W., Sale, M. M. (2007). Association of the Estrogen Receptor-{alpha} Gene With the Metabolic Syndrome and Its Component Traits in African-American Families: The Insulin Resistance Atherosclerosis Family Study. Diabetes 56: 2135-2141 [Abstract] [Full Text]  
• Boukari, K., Ciampi, M. L., Guiochon-Mantel, A., Young, J., Lombes, M., Meduri, G. (2007). Human fetal testis: source of estrogen and target of estrogen action. Hum Reprod 22: 1885-1892 [Abstract] [Full Text]  
• Williams, G. R. (2007). Hypogonadal Bone Loss: Sex Steroids or Gonadotropins?. Endocrinology 148: 2610-2612 [Full Text]  
• Grundberg, E., Akesson, K., Kindmark, A., Gerdhem, P., Holmberg, A., Mellstrom, D., Ljunggren, O., Orwoll, E., Mallmin, H., Ohlsson, C., Brandstrom, H. (2007). The Impact of Estradiol on Bone Mineral Density Is Modulated by the Specific Estrogen Receptor-{alpha} Cofactor Retinoblastoma-Interacting Zinc Finger Protein-1 Insertion/Deletion Polymorphism. J. Clin. Endocrinol. Metab. 92: 2300-2306 [Abstract] [Full Text]  
• Syed, F. A., Fraser, D. G., Spelsberg, T. C., Rosen, C. J., Krust, A., Chambon, P., Jameson, J. L., Khosla, S. (2007). Effects of Loss of Classical Estrogen Response Element Signaling on Bone in Male Mice. Endocrinology 148: 1902-1910 [Abstract] [Full Text]  
• Wierman, M. E. (2007). Sex steroid effects at target tissues: mechanisms of action. Adv. Physiol. Educ. 31: 26-33 [Abstract] [Full Text]  
• Gallagher, C. J., Keene, K. L., Mychaleckyj, J. C., Langefeld, C. D., Hirschhorn, J. N., Henderson, B. E., Gordon, C. J., Freedman, B. I., Rich, S. S., Bowden, D. W., Sale, M. M. (2007). Investigation of the Estrogen Receptor-{alpha} Gene With Type 2 Diabetes and/or Nephropathy in African-American and European-American Populations. Diabetes 56: 675-684 [Abstract] [Full Text]  
• Tobias, J. H., Steer, C. D., Vilarino-Guell, C., Brown, M. A. (2007). Estrogen Receptor {alpha} Regulates Area-Adjusted Bone Mineral Content in Late Pubertal Girls. J. Clin. Endocrinol. Metab. 92: 641-647 [Abstract] [Full Text]  
• Pino, A. M., Rodriguez, J. M., Rios, S., Astudillo, P., Leiva, L., Seitz, G., Fernandez, M., Rodriguez, J P. (2006). Aromatase activity of human mesenchymal stem cells is stimulated by early differentiation, vitamin D and leptin. J Endocrinol 191: 715-725 [Abstract] [Full Text]  
• Ferrari, S. (2006). Single Gene Mutations and Variations Affecting Bone Turnover and Strength: a Selective 2006 Update. IBMS BoneKEy 3: 11-29 [Abstract] [Full Text]  
• Dahlman-Wright, K., Cavailles, V., Fuqua, S. A., Jordan, V. C., Katzenellenbogen, J. A., Korach, K. S., Maggi, A., Muramatsu, M., Parker, M. G., Gustafsson, J.-A. (2006). International Union of Pharmacology. LXIV. Estrogen Receptors. Pharmacol. Rev. 58: 773-781 [Full Text]  
• Rochira, V., Zirilli, L., Genazzani, A. D, Balestrieri, A., Aranda, C., Fabre, B., Antunez, P., Diazzi, C., Carani, C., Maffei, L. (2006). Hypothalamic-pituitary-gonadal axis in two men with aromatase deficiency: evidence that circulating estrogens are required at the hypothalamic level for the integrity of gonadotropin negative feedback.. Eur J Endocrinol 155: 513-522 [Abstract] [Full Text]  
• Delbes, G., Levacher, C., Habert, R. (2006). Estrogen effects on fetal and neonatal testicular development.. Reproduction 132: 527-538 [Abstract] [Full Text]  
• Maghnie, M., Ambrosini, L., Cappa, M., Pozzobon, G., Ghizzoni, L., Ubertini, M. G., di Iorgi, N., Tinelli, C., Pilia, S., Chiumello, G., Lorini, R., Loche, S. (2006). Adult Height in Patients with Permanent Growth Hormone Deficiency with and without Multiple Pituitary Hormone Deficiencies. J. Clin. Endocrinol. Metab. 91: 2900-2905 [Abstract] [Full Text]  
• Sobel, V., Schwartz, B., Zhu, Y.-S., Cordero, J. J., Imperato-McGinley, J. (2006). Bone Mineral Density in the Complete Androgen Insensitivity and 5{alpha}-Reductase-2 Deficiency Syndromes. J. Clin. Endocrinol. Metab. 91: 3017-3023 [Abstract] [Full Text]  
• Aksglaede, L., Juul, A., Leffers, H., Skakkebaek, N. E., Andersson, A.-M. (2006). The sensitivity of the child to sex steroids: possible impact of exogenous estrogens. Hum Reprod Update 12: 341-349 [Abstract] [Full Text]  
• Le May, C., Chu, K., Hu, M., Ortega, C. S., Simpson, E. R., Korach, K. S., Tsai, M.-J., Mauvais-Jarvis, F. (2006). Estrogens protect pancreatic beta-cells from apoptosis and prevent insulin-deficient diabetes mellitus in mice. Proc. Natl. Acad. Sci. USA 103: 9232-9237 [Abstract] [Full Text]  
• Wright, V. J. (2006). Osteoporosis in Men. J Am Acad Orthop Surg 14: 347-353 [Abstract] [Full Text]  
• Anway, M. D., Skinner, M. K. (2006). Epigenetic Transgenerational Actions of Endocrine Disruptors. Endocrinology 147: s43-s49 [Abstract] [Full Text]  
• Pielecka, J., Moenter, S. M. (2006). Effect of Steroid Milieu on Gonadotropin-Releasing Hormone-1 Neuron Firing Pattern and Luteinizing Hormone Levels in Male Mice. Biol. Reprod. 74: 931-937 [Abstract] [Full Text]  
• Federman, D. D. (2006). The Biology of Human Sex Differences. NEJM 354: 1507-1514 [Full Text]  
• Bilezikian, J. P. (2006). What's Good for the Goose's Skeleton is Good for the Gander's Skeleton.. J. Clin. Endocrinol. Metab. 91: 1223-1225 [Full Text]  
• Guarducci, E., Nuti, F., Becherini, L., Rotondi, M., Balercia, G., Forti, G., Krausz, C. (2006). Estrogen receptor {alpha} promoter polymorphism: stronger estrogen action is coupled with lower sperm count. Hum Reprod 21: 994-1001 [Abstract] [Full Text]  
• Sims, N. A., Brennan, K., Spaliviero, J., Handelsman, D. J., Seibel, M. J. (2006). Perinatal testosterone surge is required for normal adult bone size but not for normal bone remodeling. Am. J. Physiol. Endocrinol. Metab. 290: E456-E462 [Abstract] [Full Text]  
• Rochira, V, Balestrieri, A, Madeo, B, Zirilli, L, Granata, A R M, Carani, C (2006). Osteoporosis and male age-related hypogonadism: role of sex steroids on bone (patho)physiology. Eur J Endocrinol 154: 175-185 [Abstract] [Full Text]  
• Enjuanes, A., Garcia-Giralt, N., Supervia, A., Nogues, X., Ruiz-Gaspa, S., Bustamante, M., Mellibovsky, L., Grinberg, D., Balcells, S., Diez-Perez, A. (2005). Functional analysis of the I.3, I.6, pII and I.4 promoters of CYP19 (aromatase) gene in human osteoblasts and their role in vitamin D and dexamethasone stimulation. Eur J Endocrinol 153: 981-988 [Abstract] [Full Text]  
• Hero, M., Norjavaara, E., Dunkel, L. (2005). Inhibition of Estrogen Biosynthesis with a Potent Aromatase Inhibitor Increases Predicted Adult Height in Boys with Idiopathic Short Stature: A Randomized Controlled Trial. J. Clin. Endocrinol. Metab. 90: 6396-6402 [Abstract] [Full Text]  
• Rosenfield, R. L., Devine, N., Hunold, J. J., Mauras, N., Moshang, T. Jr., Root, A. W. (2005). Salutary Effects of Combining Early Very Low-Dose Systemic Estradiol with Growth Hormone Therapy in Girls with Turner Syndrome. J. Clin. Endocrinol. Metab. 90: 6424-6430 [Abstract] [Full Text]  
• Kreher, N. C., Eugster, E. A., Shankar, R. R. (2005). The Use of Tamoxifen to Improve Height Potential in Short Pubertal Boys. Pediatrics 116: 1513-1515 [Abstract] [Full Text]  
• T'Sjoen, G. G., Giagulli, V. A., Delva, H., Crabbe, P., De Bacquer, D., Kaufman, J.-M. (2005). Comparative Assessment in Young and Elderly Men of the Gonadotropin Response to Aromatase Inhibition. J. Clin. Endocrinol. Metab. 90: 5717-5722 [Abstract] [Full Text]  
• Shearman, A. M., Cooper, J. A., Kotwinski, P. J., Humphries, S. E., Mendelsohn, M. E., Housman, D. E., Miller, G. J. (2005). Estrogen Receptor {alpha} Gene Variation and the Risk of Stroke. Stroke 36: 2281-2282 [Abstract] [Full Text]  
• Shearman, A. M., Demissie, S., Cupples, L. A., Peter, I., Schmid, C. H., Ordovas, J. M., Mendelsohn, M. E., Housman, D. E. (2005). Tobacco smoking, estrogen receptor {alpha} gene variation and small low density lipoprotein level. Hum Mol Genet 14: 2405-2413 [Abstract] [Full Text]  
• Yoshida, R., Fukami, M., Sasagawa, I., Hasegawa, T., Kamatani, N., Ogata, T. (2005). Association of Cryptorchidism with a Specific Haplotype of the Estrogen Receptor {alpha} Gene: Implication for the Susceptibility to Estrogenic Environmental Endocrine Disruptors. J. Clin. Endocrinol. Metab. 90: 4716-4721 [Abstract] [Full Text]  
• Mueller, A., Dittrich, R., Binder, H., Kuehnel, W., Maltaris, T., Hoffmann, I., Beckmann, M. W (2005). High dose estrogen treatment increases bone mineral density in male-to-female transsexuals receiving gonadotropin-releasing hormone agonist in the absence of testosterone. Eur J Endocrinol 153: 107-113 [Abstract] [Full Text]  
• Abbott, D.H., Barnett, D.K., Bruns, C.M., Dumesic, D.A. (2005). Androgen excess fetal programming of female reproduction: a developmental aetiology for polycystic ovary syndrome?. Hum Reprod Update 11: 357-374 [Abstract] [Full Text]  
• Eastell, R. (2005). Role of oestrogen in the regulation of bone turnover at the menarche. J Endocrinol 185: 223-234 [Abstract] [Full Text]  
• Kassi, E, Vlachoyiannopoulos, P G, Kominakis, A, Kiaris, H, Moutsopoulos, H M, Moutsatsou, P (2005). Estrogen receptor alpha gene polymorphism and systemic lupus erythematosus: a possible risk?. Lupus 14: 391-398 [Abstract]  
• Simpson, E. R., Misso, M., Hewitt, K. N., Hill, R. A., Boon, W. C., Jones, M. E., Kovacic, A., Zhou, J., Clyne, C. D. (2005). Estrogen--the Good, the Bad, and the Unexpected. Endocr. Rev. 26: 322-330 [Full Text]  
• Phillips, G. B. (2005). Is Atherosclerotic Cardiovascular Disease an Endocrinological Disorder? The Estrogen-Androgen Paradox. J. Clin. Endocrinol. Metab. 90: 2708-2711 [Abstract] [Full Text]  
• Napoli, N., Donepudi, S., Sheikh, S., Rini, G. B., Armamento-Villareal, R. (2005). Increased 2-Hydroxylation of Estrogen in Women with a Family History of Osteoporosis. J. Clin. Endocrinol. Metab. 90: 2035-2041 [Abstract] [Full Text]  
• Gennari, L., Merlotti, D., De Paola, V., Calabro, A., Becherini, L., Martini, G., Nuti, R. (2005). Estrogen Receptor Gene Polymorphisms and the Genetics of Osteoporosis: A HuGE Review. Am J Epidemiol 161: 307-320 [Abstract] [Full Text]  
• de Ronde, W., Hofman, A., Pols, H. A P, de Jong, F. H (2005). A direct approach to the estimation of the origin of oestrogens and androgens in elderly men by comparison with hormone levels in postmenopausal women. Eur J Endocrinol 152: 261-268 [Abstract] [Full Text]  
• Parikka, V., Peng, Z., Hentunen, T., Risteli, J., Elo, T., Vaananen, H K., Harkonen, P. (2005). Estrogen responsiveness of bone formation in vitro and altered bone phenotype in aged estrogen receptor-{alpha}-deficient male and female mice. Eur J Endocrinol 152: 301-314 [Abstract] [Full Text]  
• Veldhuis, J. D., Roemmich, J. N., Richmond, E. J., Rogol, A. D., Lovejoy, J. C., Sheffield-Moore, M., Mauras, N., Bowers, C. Y. (2005). Endocrine Control of Body Composition in Infancy, Childhood, and Puberty. Endocr. Rev. 26: 114-146 [Abstract] [Full Text]  
• Zhou, P., Shah, B., Prasad, K., David, R. (2005). Letrozole Significantly Improves Growth Potential in a Pubertal Boy With Growth Hormone Deficiency. Pediatrics 115: e245-e248 [Abstract] [Full Text]  
• Veldhuis, J. D., Iranmanesh, A. (2005). Short-Term Aromatase-Enzyme Blockade Unmasks Impaired Feedback Adaptations in Luteinizing Hormone and Testosterone Secretion in Older Men. J. Clin. Endocrinol. Metab. 90: 211-218 [Abstract] [Full Text]  
• Borst, S. E., Lee, J. H., Conover, C. F. (2005). Inhibition of 5{alpha}-reductase blocks prostate effects of testosterone without blocking anabolic effects. Am. J. Physiol. Endocrinol. Metab. 288: E222-E227 [Abstract] [Full Text]  
• Gennari, L., Nuti, R., Bilezikian, J. P. (2004). Aromatase Activity and Bone Homeostasis in Men. J. Clin. Endocrinol. Metab. 89: 5898-5907 [Abstract] [Full Text]  
• 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 [Abstract] [Full Text]  
• Herynk, M. H., Fuqua, S. A. W. (2004). Estrogen Receptor Mutations in Human Disease. Endocr. Rev. 25: 869-898 [Abstract] [Full Text]  
• Doherty, T. M., Fitzpatrick, L. A., Inoue, D., Qiao, J.-H., Fishbein, M. C., Detrano, R. C., Shah, P. K., Rajavashisth, T. B. (2004). Molecular, Endocrine, and Genetic Mechanisms of Arterial Calcification. Endocr. Rev. 25: 629-672 [Abstract] [Full Text]  
• Valimaki, V.-V., Alfthan, H., Ivaska, K. K., Loyttyniemi, E., Pettersson, K., Stenman, U.-H., Valimaki, M. J. (2004). Serum Estradiol, Testosterone, and Sex Hormone-Binding Globulin as Regulators of Peak Bone Mass and Bone Turnover Rate in Young Finnish Men. J. Clin. Endocrinol. Metab. 89: 3785-3789 [Abstract] [Full Text]  
• Oliveira, C. A, Mahecha, G. A B, Carnes, K., Prins, G. S, Saunders, P. T K, Franca, L. R, Hess, R. A (2004). Differential hormonal regulation of estrogen receptors ER{alpha} and ER{beta} and androgen receptor expression in rat efferent ductules. Reproduction 128: 73-86 [Abstract] [Full Text]  
• Delbes, G., Levacher, C., Pairault, C., Racine, C., Duquenne, C., Krust, A., Habert, R. (2004). Estrogen Receptor {beta}-Mediated Inhibition of Male Germ Cell Line Development in Mice by Endogenous Estrogens during Perinatal Life. Endocrinology 145: 3395-3403 [Abstract] [Full Text]  
• Vanderschueren, D., Vandenput, L., Boonen, S., Lindberg, M. K., Bouillon, R., Ohlsson, C. (2004). Androgens and Bone. Endocr. Rev. 25: 389-425 [Abstract] [Full Text]  
• Meier, C., Liu, P. Y., Ly, L. P., de Winter-Modzelewski, J., Jimenez, M., Handelsman, D. J., Seibel, M. J. (2004). Recombinant Human Chorionic Gonadotropin But Not Dihydrotestosterone Alone Stimulates Osteoblastic Collagen Synthesis in Older Men with Partial Age-Related Androgen Deficiency. J. Clin. Endocrinol. Metab. 89: 3033-3041 [Abstract] [Full Text]  
• Pinzone, J. J., Stevenson, H., Strobl, J. S., Berg, P. E. (2004). Molecular and Cellular Determinants of Estrogen Receptor {alpha} Expression. Mol. Cell. Biol. 24: 4605-4612 [Full Text]  
• Villablanca, A., Lubahn, D., Shelby, L., Lloyd, K., Barthold, S. (2004). Susceptibility to Early Atherosclerosis in Male Mice Is Mediated by Estrogen Receptor {alpha}. Arterioscler. Thromb. Vasc. Bio. 24: 1055-1061 [Abstract] [Full Text]  
• Wang, C., Cunningham, G., Dobs, A., Iranmanesh, A., Matsumoto, A. M., Snyder, P. J., Weber, T., Berman, N., Hull, L., Swerdloff, R. S. (2004). Long-Term Testosterone Gel (AndroGel) Treatment Maintains Beneficial Effects on Sexual Function and Mood, Lean and Fat Mass, and Bone Mineral Density in Hypogonadal Men. J. Clin. Endocrinol. Metab. 89: 2085-2098 [Abstract] [Full Text]  
• Hegele-Hartung, C., Siebel, P., Peters, O., Kosemund, D., Muller, G., Hillisch, A., Walter, A., Kraetzschmar, J., Fritzemeier, K.-H. (2004). Impact of isotype-selective estrogen receptor agonists on ovarian function. Proc. Natl. Acad. Sci. USA 101: 5129-5134 [Abstract] [Full Text]