Research of J. Imperato-McGinley

Timeline of 101 publications by J. Imperato-McGinley in PubMed, from 1974–2022

This bibliography is a selection of papers by J. Imperato-McGinley focusing primarily on male pseudohermaphroditism, 5-alpha reductase deficiency and the development of finasteride. Citations are in reverse chronological order.

See also: Criticisms and context • 5-alpha reductase deficiency • How was finasteride invented?Clinical trials of finasteride

Jump to: 1980s | 1990–94 | 1995–99 | 2000s


Imperato-McGinley J, Peterson RE, Gautier T, Sturla E. Androgens and the evolution of male-gender identity among male pseudohermaphrodites with 5alpha-reductase deficiency. N Engl J Med. 1979;300(22):1233-1237. doi:10.1056/NEJM197905313002201

Imperato-McGinley J, Peterson RE, Stoller R, Goodwin WE. Male pseudohermaphroditism secondary to 17 beta-hydroxysteroid dehydrogenase deficiency: gender role change with puberty. J Clin Endocrinol Metab. 1979 Sep;49(3):391-5. doi:10.1210/jcem-49-3-391

Imperato-McGinley J, Peterson RE, Gautier T, Sturla E. Male pseudohermaphroditism secondary to 5 alpha-reductase deficiency—a model for the role of androgens in both the development of the male phenotype and the evolution of a male gender identity. J Steroid Biochem. 1979 Jul;11(1B):637-45. doi:10.1016/0022-4731(79)90093-1

Peterson RE, Imperato-McGinley J, Gautier T, Sturla E. Male pseudohermaphroditism due to steroid 5-alpha-reductase deficiency. Am J Med. 1977;62(2):170-191. doi:10.1016/0002-9343(77)90313-8

Imperato-McGinley J, Peterson RE. Male pseudohermaphroditism: The complexities of male phenotypic development. Am J Med. 1976;61(2):251-272. doi:10.1016/0002-9343(76)90175-3

Imperato-McGinley J, Guerrero L, Gautier T, Peterson RE. Steroid 5α-reductase deficiency in man: an inherited form of male pseudohermaphroditism. Science. 1974;186(4170):1213-1215. doi:10.1126/science.186.4170.1213

Imperato-McGinley, Guerrero L, Gautier T, Peterson RE. 93. An unusual inherited form of male pseudohermaphroditism. A model of 5α-reductase deficiency in man. Journal of Steroid Biochemistry. 1974;5(4):318. doi:10.1016/0022-4731(74)90238-6


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Ertel NH, Akgun S, Samojlik E, Kirschner MA, Imperato-McGinley J. Decreased 3 alpha-androstanediol glucuronide levels in plasma and random urines in male pseudohermaphroditism caused by 5 alpha-reductase deficiency. Metabolism. 1989 Sep;38(9):817-21. doi:10.1016/0026-0495(89)90225-4

Imperato-McGinley J, Akgun S, Ertel NH, Sayli B, Shackleton C. The coexistence of male pseudohermaphrodites with 17-ketosteroid reductase deficiency and 5 alpha-reductase deficiency within a Turkish kindred. Clin Endocrinol (Oxf). 1987 Jul;27(1):135-43. doi:10.1111/j.1365-2265.1987.tb00849.x

Akgun S, Ertel NH, Imperato-McGinley J, Sayli BS, Shackleton C. Familial male pseudohermaphroditism due to 5-alpha-reductase deficiency in a Turkish village. Am J Med. 1986 Aug;81(2):267-74. doi:10.1016/0002-9343(86)90262-7

Imperato-McGinley J, Binienda Z, Gedney J, Vaughan ED Jr. Nipple differentiation in fetal male rats treated with an inhibitor of the enzyme 5 alpha-reductase: definition of a selective role for dihydrotestosterone. Endocrinology. 1986 Jan;118(1):132-7. doi:10.1210/endo-118-1-132

Imperato-McGinley J, Gautier T, Peterson RE, Shackleton C. The prevalence of 5α-reductase deficiency in children with ambiguous genitalia in the Dominican Republic. J Urol. 1986;136(4):867-873. doi:10.1016/S0022-5347(17)45108-1

Imperato-McGinley J, Gautier T, Pichardo M, Shackleton C. The diagnosis of 5 alpha-reductase deficiency in infancy. J Clin Endocrinol Metab. 1986 Dec;63(6):1313-8. doi:10.1210/jcem-63-6-1313

Peterson RE, Imperato-McGinley J, Gautier T, Shackleton C. Urinary steroid metabolites in subjects with male pseudohermaphroditism due to 5 alpha-reductase deficiency. Clin Endocrinol (Oxf). 1985;23(1):43-53. doi:10.1111/j.1365-2265.1985.tb00181.x

Imperato-McGinley J, Binienda Z, Arthur A, Mininberg DT, Darracott Vaughan E, Quimby FW. The development of a male pseudohermaphroditic rat using an inhibitor of the enzyme 5α-reductase. Endocrinology. 1985;116(2):807-812. doi:10.1210/endo-116-2-807

Imperato-McGinley J, Peterson RE, Gautier T, Arthur A, Shackleton C. Decreased urinary C19 and C21 steroid 5ɑ-metabolites in parents of male pseudohermaphrodites with 5ɑ-reductase deficiency: detection of carriers. J Clin Endocrinol Metab. 1985;60(3):553-558. doi:10.1210/jcem-60-3-553

Imperato-McGinley J, Peterson RE, Gautier T, et al. Hormonal evaluation of a large kindred with complete androgen insensitivity: evidence for secondary 5 alpha-reductase deficiency. J Clin Endocrinol Metab. 1982 May;54(5):931-41. doi:10.1210/jcem-54-5-931

Imperato-McGinley J, Peterson RE, Gautier T, Sturla E. The impact of androgens on the evolution of male gender identity. In: Kogan SJ, Hafez ESE, eds. Pediatric Andrology. Clinics in Andrology, vol 7. Dordrecht, Netherlands: Springer; 1981: 99-108. doi:10.1007/978-94-010-3719-8_10

Schwartz M, Imperato-McGinley J, Peterson RE, et al. Male pseudohermaphroditism secondary to an abnormality in Leydig cell differentiation. J Clin Endocrinol Metab. 1981 Jul;53(1):123-7. doi:10.1210/jcem-53-1-123

Imperato-McGinley J, Peterson RE, Leshin M, et al. Steroid 5 alpha-reductase deficiency in a 65-year-old male pseudohermaphrodite: the natural history, ultrastructure of the testes, and evidence for inherited enzyme heterogeneity. J Clin Endocrinol Metab. 1980 Jan;50(1):15-22. doi:10.1210/jcem-50-1-15


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Cai LQ, Fratianni CM, Gautier T, Imperato-McGinley J. Dihydrotestosterone regulation of semen in male pseudohermaphrodites with 5ɑ-reductase-2 deficiency. J Clin Endocrinol Metab. 1994;79(2):409-414. doi:10.1210/jcem.79.2.8045956

Canovatchel WJ, Volquez D, Huang S, et al. Luteinizing hormone pulsatility in subjects with 5-alpha-reductase deficiency and decreased dihydrotestosterone production. J Clin Endocrinol Metab. 1994 Apr;78(4):916-21. doi:10.1210/jcem.78.4.8157721

Imperato-McGinley J. 5-alpha-reductase deficiency. Curr Ther Endocrinol Metab. 1994;5:351-354. PubMed [see also 1997 article in same journal]

Imperato-McGinley J. 5 alpha-reductase deficiency: human and animal models. Eur Urol. 1994;25 Suppl 1:20-3. doi:10.1159/000475327

Imperato-McGinley J. Benign prostatic hyperplasia: dihydrotestosterone and 5 alpha-reductase inhibition therapy. Prog Clin Biol Res. 1994;386:197-203. PubMed

Oesterling JE, el Etreby MF, Gormley GJ, et al. Endocrine therapies for BPH: scientific rationale, clinical results, and patient selection. Prog Clin Biol Res. 1994;386:231-50. PubMed

Imperato-McGinley J, Gautier T, Cai LQ, Yee B, Epstein J, Pochi P. The androgen control of sebum production. Studies of subjects with dihydrotestosterone deficiency and complete androgen insensitivity. J Clin Endocrinol Metab. 1993;76(2):524-528. doi:10.1210/jcem.76.2.8381804

Gormley GJ, Stoner E, Bruskewitz RC, et al. The effect of finasteride in men with benign prostatic hyperplasia. 1992. J Urol. 1992;167(2 Pt 2):1102-1107; discussion 1108. doi:10.1016/s0022-5347(02)80349-4

Gormley GJ, Stoner E, Bruskewitz RC, et al. The effect of finasteride in men with benign prostatic hyperplasia. The Finasteride Study Group. N Engl J Med. 1992 Oct 22;327(17):1185-91. doi:10.1056/NEJM199210223271701

Thigpen AE, Davis DL, Gautier T, Imperato-McGinley J, Russell DW. Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred. N Engl J Med. 1992 Oct 22;327(17):1216-9. doi:10.1056/NEJM199210223271706

Imperato-McGinley J, Gautier T, Zirinsky K, et al. Prostate visualization studies in males homozygous and heterozygous for 5 alpha-reductase deficiency. J Clin Endocrinol Metab. 1992 Oct;75(4):1022-6. doi:10.1210/jcem.75.4.1400866

Imperato-McGinley J, Sanchez RS, Spencer JR, Yee B, Vaughan ED. Comparison of the effects of the 5 alpha-reductase inhibitor finasteride and the antiandrogen flutamide on prostate and genital differentiation: dose-response studies. Endocrinology. 1992 Sep;131(3):1149-56. doi:10.1210/endo.131.3.1324152

Thigpen AE, Davis DL, Milatovich A, et al. Molecular genetics of steroid 5 alpha-reductase 2 deficiency. J Clin Invest. 1992 Sep;90(3):799-809. doi:10.1172/JCI115954

Gormley GJ, Stoner E, Bruskewitz RC, et al; Finasteride Study Group. The effect of finasteride in men with benign prostatic hyperplasia. 1992. J Urol. 2002 Feb;167(2 Pt 2):1102-7; discussion 1108. doi:10.1016/s0022-5347(02)80349-4

Jenkins EP, Andersson S, Imperato-McGinley J, Wilson JD, Russell DW. Genetic and pharmacological evidence for more than one human steroid 5 alpha-reductase. J Clin Invest. 1992 Jan;89(1):293-300. doi:10.1172/JCI115574

De Schepper PJ, Imperato-McGinley J, Van Hecken A, et al. Hormonal effects, tolerability, and preliminary kinetics in men of MK-906, a 5 alpha-reductase inhibitor. Steroids. 1991 Sep;56(9):469-71. doi:10.1016/0039-128x(91)90003-e

Imperato-McGinley J. 5ɑ-metabolism in finasteride-treated subjects and male pseudohermaphrodites with inherited 5ɑ-reductase deficiency. A review. Eur Urol. 1991;20 Suppl 1:78-81. doi:10.1159/000471751

Imperato-McGinley J, Miller M, Wilson JD, Peterson RE, Shackleton C, Gajdusek DC. A cluster of male pseudohermaphrodites with 5ɑ-reductase deficiency in Papua New Guinea. Clin Endocrinol (Oxf). 1991;34(4):293-298. doi:10.1111/j.1365-2265.1991.tb03769.x

Spencer JR, Torrado T, Sanchez RS, Vaughan ED Jr, Imperato-McGinley J. Effects of flutamide and finasteride on rat testicular descent. Endocrinology. 1991 Aug;129(2):741-8. doi:10.1210/endo-129-2-741

Carpenter TO, Imperato-McGinley J, Boulware SD, et al. Variable expression of 5 alpha-reductase deficiency: presentation with male phenotype in a child of Greek origin. J Clin Endocrinol Metab. 1990 Aug;71(2):318-22. doi:10.1210/jcem-71-2-318

Imperato-McGinley J, Shackleton C, Orlic S, Stoner E. C19 and C21 5β/5ɑ metabolite ratios in subjects treated with the 5ɑ-reductase inhibitor finasteride: comparison of male pseudohermaphrodites with inherited 5ɑ-reductase deficiency. J Clin Endocrinol Metab. 1990;70(3):777-782. doi:10.1210/jcem-70-3-777


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Roberts JL, Fiedler V, Imperato-McGinley J, et al. Clinical dose ranging studies with finasteride, a type 2 5alpha-reductase inhibitor, in men with male pattern hair loss. J Am Acad Dermatol. 1999 Oct;41(4):555-63. PubMed

Can S, Zhu YS, Cai LQ, et al. The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred. J Clin Endocrinol Metab. 1998 Feb;83(2):560-9. doi:10.1210/jcem.83.2.4535

Zhu YS, Katz MD, Imperato-McGinley J. Natural potent androgens: lessons from human genetic models. Baillieres Clin Endocrinol Metab. 1998 Apr;12(1):83-113. doi:10.1016/s0950-351x(98)80478-3

Canto P, Vilchis F, Chávez B, et al. Mutations of the 5 alpha-reductase type 2 gene in eight Mexican patients from six different pedigrees with 5 alpha-reductase-2 deficiency. Clin Endocrinol (Oxf). 1997 Feb;46(2):155-60. doi:10.1046/j.1365-2265.1997.800904.x

Imperato-McGinley J. 5 alpha-reductase-2 deficiency. Curr Ther Endocrinol Metab. 1997;6:384-387. PubMed [see also 1994 article in same journal]

Katz MD, Kligman I, Cai LQ, et al. Paternity by intrauterine insemination with sperm from a man with 5alpha-reductase-2 deficiency. N Engl J Med. 1997;336(14):994-997. doi:10.1056/NEJM199704033361404

Cai LQ, Zhu YS, Katz MD, et al. 5 alpha-reductase-2 gene mutations in the Dominican Republic. J Clin Endocrinol Metab. 1996;81(5):1730-1735. doi:10.1210/jcem.81.5.8626825

Katz MD, Cai LQ, Zhu YS, et al. The biochemical and phenotypic characterization of females homozygous for 5 alpha-reductase-2 deficiency. J Clin Endocrinol Metab. 1995 Nov;80(11):3160-7. doi:10.1210/jcem.80.11.7593420

Méndez JP, Ulloa-Aguirre A, Imperato-McGinley J, et al. Male pseudohermaphroditism due to primary 5 alpha-reductase deficiency: variation in gender identity reversal in seven Mexican patients from five different pedigrees. J Endocrinol Invest. 1995 Mar;18(3):205-13. doi:10.1007/BF03347803

Moore E, Bracken B, Bremner W, et al. Proscar: five-year experience. Eur Urol. 1995;28(4):304-9. doi:10.1159/000475071. Erratum in: Eur Urol 1996;29(2):234.


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Zhu YS, Imperato-McGinley JL. 5alpha-reductase isozymes and androgen actions in the prostate. Ann N Y Acad Sci. 2009 Feb;1155:43-56. doi:10.1111/j.1749-6632.2009.04115.x

Sobel V, Schwartz B, Zhu YS, Cordero JJ, Imperato-McGinley J. Bone mineral density in the complete androgen insensitivity and 5α-reductase-2 deficiency syndromes. The Journal of Clinical Endocrinology & Metabolism. 2006;91(8):3017-3023. doi:10.1210/jc.2005-2809

Sobel V, Imperato-McGinley J. Gender identity in XY intersexuality. Child and adolescent psychiatric clinics of North America. 2004;13(3):609-622. doi:10.1016/j.chc.2004.02.014

Sobel V, Zhu YS, Imperato-McGinley J. Fetal hormones and sexual differentiation. Obstet Gynecol Clin North Am. 2004 Dec;31(4):837-56, x-xi. doi:10.1016/j.ogc.2004.08.005

Zhu YS, Cordero JJ, Can S, et al. Mutations in CYP11B1 gene: phenotype-genotype correlations. Am J Med Genet A. 2003 Oct 15;122A(3):193-200. doi:10.1002/ajmg.a.20108

Imperato-McGinley J. 5alpha-reductase-2 deficiency and complete androgen insensitivity: lessons from nature. Adv Exp Med Biol. 2002;511:121-31; discussion 131-4. doi:10.1007/978-1-4615-0621-8_8

Imperato-McGinley J, Zhu YS. Androgens and male physiology the syndrome of 5alpha-reductase-2 deficiency. Mol Cell Endocrinol. 2002 Dec 30;198(1-2):51-9. doi:10.1016/s0303-7207(02)00368-4

Vaughan D, Imperato-McGinley J, McConnell J, et al. Long-term (7 to 8-year) experience with finasteride in men with benign prostatic hyperplasia. Urology. 2002 Dec;60(6):1040-4. doi:10.1016/s0090-4295(02)01971-4


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Zhu YS, Imperato-McGinley JL. 4.02 – Disorders of sex development in males: molecular genetics, epigenetics, gender identity, and cognition. In: Pfaff DW, Joëls M, eds. Hormones, Brain and Behavior (Third Edition). Academic Press; 2017:59-103. doi:10.1016/B978-0-12-803592-4.00067-5

Kang HJ, Imperato-McGinley J, Zhu YS, Rosenwaks Z. The effect of 5α-reductase-2 deficiency on human fertility. Fertil Steril. 2014;101(2):310-316. doi:10.1016/j.fertnstert.2013.11.128

Wen J, Zhao Y, Li J. Suppression of DHT-induced paracrine stimulation of endothelial cell growth by estrogens via prostate cancer cells. Prostate. 2013 Jul;73(10):1069-81. doi:10.1002/pros.22654

Cai J, Hong Y, Weng C, Tan C, Imperato-McGinley J, Zhu YS. Androgen stimulates endothelial cell proliferation via an androgen receptor/VEGF/cyclin A-mediated mechanism. Am J Physiol Heart Circ Physiol. 2011 Apr. doi:10.1152/ajpheart.01210.2010

Kang HJ, Imperato-McGinley J, Zhu YS, et al. The first successful paternity through in vitro fertilization–intracytoplasmic sperm injection with a man homozygous for the 5α-reductase-2 gene mutation. Fertility and sterility. 2011;95(6):2125.e5-2125.e8. doi:10.1016/j.fertnstert.2011.01.121