Effect of Testosterone and Estradiol in a Man with Aromatase Deficiency

doi:10.1056/NEJM199707103370204

Volume 337:91-95		July 10, 1997		Number 2

Effect of Testosterone and Estradiol in a Man with Aromatase Deficiency

Cesare Carani, M.D., Kenan Qin, Ph.D., Manuela Simoni, M.D., Ph.D., Marco Faustini-Fustini, M.D., Stefania Serpente, M.D., Jeff Boyd, Ph.D., Kenneth S. Korach, Ph.D., and Evan R. Simpson, Ph.D.

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Recent reports of disruptive mutations of the genes for theestrogen receptor or for cytochrome P-450 aromatase¹^,²^,³^,⁴^,⁵^,⁶have shed new light on the role of estrogen. In females thelack of estrogen due to aromatase deficiency leads to pseudohermaphroditismand progressive virilization at puberty, whereas in males pubertaldevelopment is normal. In members of both sexes epiphyseal closureis delayed, resulting in a eunuchoid habitus, and osteopeniais present.⁶ These findings suggest a crucial role of estrogenin skeletal maturation.¹^,²^,³^,⁴^,⁵^,⁶ We describe the responsesto androgen and estrogen in a man with a novel, homozygous inactivatingmutation of the P-450 . . . [Full Text of this Article]

Case Report

Methods

Biochemical Measurements

Molecular Analysis of the Genes for the Estrogen Receptor and P-450 Aromatase

Discussion

Source Information

From the Department of Internal Medicine, University of Modena, Modena, Italy (C.C., M.F.-F., S.S.); the Cecil and Ida Green Center for Reproductive Biology Sciences and the Departments of Obstetrics–Gynecology and Biochemistry, University of Texas Southwestern Medical Center, Dallas (K.Q., E.R.S.); the Institute of Reproductive Medicine, University of Muenster, Muenster, Germany (M.S.); the Department of Obstetrics and Gynecology, University of Pennsylvania Medical School, Philadelphia (J.B.); and the Laboratory of Reproductive and Developmental Toxicology, National Institutes of Health, Research Triangle Park, N.C. (K.S.K.).

Address reprint requests to Dr. Carani at the Division of Endocrinology, Department of Internal Medicine, University of Modena, Via del Pozzo, 71, I-41100 Modena, Italy.

References

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