Aromatase Deficiency in Women and Men: Would You Have Predicted the Phenotypes?

Journal of Clinical Endocrinology and Metabolism

Volumn 81, Issue 3, 1996, Pages 867-871

  Bulun, Serdar E ^a,b  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AROMATASE;

ANIMAL; CARNIVORA; DISEASE MODEL; FEMALE; FORECASTING; GENOTYPE; HUMAN; MALE; PHENOTYPE; REVIEW; SEXUAL DEVELOPMENT; CLINICAL EXAMINATION; DEVELOPMENTAL DISORDER; ENZYME DEFICIENCY; LABORATORY DIAGNOSIS; NONHUMAN; PREDICTION; PRIORITY JOURNAL; SEX DIFFERENCE;

ANIMALS; AROMATASE; CARNIVORA; DISEASE MODELS, ANIMAL; FEMALE; FORECASTING; GENOTYPE; HUMANS; MALE; PHENOTYPE; SEX CHARACTERISTICS;

EID: 0029665118     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.81.3.867     Document Type: Review

References (27)

1. Cagnacci A, Soldani R, Carriere PL, Paoletti AM, Fioretti P, Melis GB. 1992 Effects of low doses of transdermal 17β-estradiol on carbohydrate metabolism in postmenopausal women. J Clin Endocrinol Metab. 74:1396-1400.
2. Smith EP, Boyd J, Frank GR, et al. 1994 Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. N Engl J Med. 331:1056-1061.
3. Morishima A, Grumbach MM, Simpson ER, Fisher C, Kenan Q. 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.
4. Simpson ER, Mahendroo MS, Means GD, et al. 1994 Aromatase cytochrome P450, the enzyme responsible for estrogen biosynthesis. Endocr Rev. 15:342-355.
5. MacDonald PC, Madden JD, Brenner PF, Wilson JD, Siiteri PK. 1979 Origin of estrogen in normal men, and in women with testicular feminization. J Clin Endocrinol Metab. 49:905-916.
6. Ackerman GE, Smith ME, Mendelson CR, MacDonald PC, Simpson ER. 1981 Aromatization of androstenedione by human adipose tissue stromal cells in monolayer culture. J Clin Endocrinol Metab. 53:412-417.
7. Shozu M, Akasofu K, Harada T, Kubota Y. 1991 A new cause of female pseudohermaphroditism: placental aromatase deficiency. J Clin Endocrinol Metab. 72:560-566.
8. Harada N, Ogawa H, Shozu M, et al. 1992 Biochemical, and molecular genetic analyses on placental aromatase (P. 450arom) deficiency. J Biol Chem. 267: 4781-4785.
9. Mango D, Montemurro A, Scirpa P, Bompiani A, Menini E. 1978 Four cases of pregnancy with low estrogen production due to placental enzymatic deficiency. Eur J Obstet Gynaecol Reprod Biol. 8:65-71.
10. Conte FA, Grumbach MM, Ito Y, Fisher CR, Simpson ER. 1994 A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom). J Clin Endocrinol Metab. 78:1287-1292.
11. Casey ML, MacDonald PC, Simpson ER. 1992 Endocrinological changes of pregnancy. In: Foster DW, Wilson JD, eds. Williams' textbook of endocrinology. Philadelphia: Saunders; 977-992.
12. Verkauf BS, Reiter ED, Hernandez L, Burns SA. 1977 Virilization of mother, and fetus associated with luteoma of pregnancy: a case report with endocrinologic studies. Am J Obstet Gynecol. 129:274-280.
13. Grumbach MM, Ducharme JR. 1960 The effects of androgens on fetal sexual development. Androgen-induced female pseudohermaphroditism. Fertil Steril. 11:157-180.
14. Corbin CJ, Graham-Lorence S, McPhaul M, Mason JI, Mendelson CR, Simpson ER. 1988 Isolation of a full length cDN A insert encoding human aromatase system cytochrome P-450 and its expression in non-steroidogenic cells. Proc Natl Acad Sci USA. 85:8948-8952.
15. Grodin JM, Siiteri PK, MacDonald PC. 1973 Source of estrogen production in postmenopausal women. J Clin Endocrinol Metab. 36:207-214.
16. arom: the promoter responsible for expression in adipose is different from that utilized in placenta. J Biol Chem. 266: 11276-11281.
17. Mahendroo MS, Mendelson CR, Simpson ER. 1993 Tissue-specific and hormonally-controlled alternative promoters regulate aromatase cytochrome P450 gene expression in human adipose tissue. J Biol Chem 268:19463-19470.
18. Yalcinkaya TM, Siiteri PK, Vigne J, et al. 1993 A mechanism for virilization of female spotted hyenas. in utero. Science. 260:1929-1931.
19. Siiteri PK, MacDonald PC. 1966 Placental estrogen biosynthesis during human pregnancy. J Clin Endocrinol Metab. 26:751-761.
20. Ito Y, Fisher CR, Conte FA, Grumbach MM, Simpson ER. 1993 The molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. Proc Natl Acad Sci USA. 90:11673-11677.
21. 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.
22. Hutchinson JB. 1991 Hormonal control of behavior: Steroid action in the brain. Curr Opin Neurobiol. 1:562-570.
23. Finkelstein JS, O'Dea LS, Whitcomb RW, Crowley WF. 1991 Sex steroid control of gonadotropin secretion in the human male. II. Effects of estradiol administration in normal and GnRH deficient men. J Clin Endocrinol Metab. 74:621-628.
24. Bagatell CJ, Dahl KD, Bremner WJ. 1994 The direct pituitary effect of testosterone to inhibit gonadotropin secretion in men is partially mediated by aromatization to estradiol. J Androl. 15:15-21.
25. Horowitz MC. 1993 Cytokines, and estrogen in bone: anti-osteoporotic effects. Science. 260:626-627.
26. Jilka RL, Hangoc G, Girasole G, et al. 1992 Increased osteoclast development after estrogen loss: mediation by interleukin-6 Science. 257:88-91.
27. Bagatell CJ, Knopp RH, Rivier JE, Bremner WJ. 1994 Physiological levels of estradiol stimulate plasma high density lipoprotein 2 cholesterol levels in normal men. J Clin Endocrinol Metab. 78:855-861.