Research of J. Imperato-McGinley

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

This bibliography is a selection of papers by Dr. Julianne Imperato-McGinley focusing primarily on male pseudohermaphroditism, 5-alpha reductase deficiency and the development of finasteride. Citations appear in 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, 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 Jun;5(4):318. doi:10.1016/0022-4731(74)90238-6

Imperato-McGinley J, Guerrero L, Gautier T, Peterson RE. Steroid 5α-reductase deficiency in man: an inherited form of male pseudohermaphroditism. Science. 1974 Dec 27;186(4170):1213-1215. doi:10.1126/science.186.4170.1213

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

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, Gautier T, Sturla E. Androgens and the evolution of male-gender identity among male pseudohermaphrodites with 5alpha-reductase deficiency. N Engl J Med. 1979 May 31;300(22):1233-1237. doi:10.1056/NEJM197905313002201

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

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


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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

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, 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, 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, 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 Feb 1;116(2):807-812. doi:10.1210/endo-116-2-807

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 Jul;23(1):43-53. doi:10.1111/j.1365-2265.1985.tb00181.x

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

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, Gautier T, Peterson RE, Shackleton C. The prevalence of 5α-reductase deficiency in children with ambiguous genitalia in the Dominican Republic. J Urol. 1986 Oct 1;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

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

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


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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 Mar 1;70(3):777-782. doi:10.1210/jcem-70-3-777

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. 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 Apr;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

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

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

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

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

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, Imperato-McGinley J, Walsh PC, McConnell JD, Andriole GL, Geller J, Bracken BR, Tenover JS, et al, for The Finasteride Study Group. The effect of finasteride in men with benign prostatic hyperplasia. N Engl J Med. 1992 Oct 22;327(17):1185-91. doi:10.1056/NEJM199210223271701

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

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. 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

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

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 Aug 1;79(2):409-414. doi:10.1210/jcem.79.2.8045956

Imperato-McGinley J. 5 alpha-reductase deficiency: human and animal models. Eur Urol. 1994 Aug 11;25 Suppl 1:20-3. doi:10.1159/000475327


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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

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

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

Cai LQ, Zhu YS, Katz MD, et al. 5 alpha-reductase-2 gene mutations in the Dominican Republic. J Clin Endocrinol Metab. 1996 May 1;81(5):1730-1735. doi:10.1210/jcem.81.5.8626825

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

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

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 Apr 3;336(14):994-997. doi:10.1056/NEJM199704033361404

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

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


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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

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

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

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

Sobel V, Imperato-McGinley J. Gender identity in XY intersexuality. Child and adolescent psychiatric clinics of North America. 2004 Jul;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

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

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


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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 May;95(6):2125.e5-2125.e8. doi:10.1016/j.fertnstert.2011.01.121

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

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

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