Male pseudohermaphroditism due to steroid 5α-reductase deficiency

      This paper is only available as a PDF. To read, Please Download here.


      A new inherited form of male pseudohermaphroditism has been investigated in a pedigree of 24 families with 38 affected males. At birth, the affected males (46 XY) have a clitoral-like phallus, bifid scrotum and urogenital sinus. The testes are in the inguinal canals or labial-scrotal folds. The Wolffian structures are normally differentiated; there are no Mullerian structures. At puberty a muscular male habitus develops with growth of the phallus and scrotum, voice change and no gynecomastia. The subjects have erections, ejaculations and a libido directed towards females. They have decreased body hair, a scant to absent beard, no temporal hair line recession and a small prostate. Testicular biopsy reveals a normal testis. The mean plasma T levels in affected adults are significantly higher, and the mean plasma DHT levels are significantly lower when compared to those in normal subjects. The plasma T:DHT ratios range from 35 to 84 compared to 8 to 16 in normal subjects. After the administration of hCG, the T:DHT ratios in affected male children range from 74 to 162 compared to 3 to 26 in the control subjects. In affected adults, mean plasma LH and FSH levels are significantly higher than in normal subjects. In the affected subjects, the metabolic clearance rates of T and DHT are normal, but the conversion ratio of T to DHT is less than 1 per cent. The endogenous mean urinary E:A and E-OH:A-OH ratios, and the urinary E:A and E-OH:A-OH ratios after the infusion of radioactive T are significantly higher than in normal males. Inheritance is autosomal recessive with some sibling sisters showing the same biochemical defect, and obligate carrier parents showing an intermediate defect. These data support our thesis that the defect in these male pseudohermaphrodites is secondary to decreased steroid Δ4-5α-reductase activity. The affected subjects provide a clinical model for delineating the roles of T and DHT in sexual differentiation and development. This entity also demonstrates an inherited disorder of steroid metabolism in which the basic enzyme deficiency resides in the target tissues.
      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'


      Subscribe to The American Journal of Medicine
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


        • Imperato-McGinley J
        • Guerrero L
        • Gautier T
        • et al.
        Steroid 5α-reductase deficiency in man. An inherited form of male pseudohermaphroditism.
        Science. 1974; 186: 1213
        • Imperato-McGinley J
        • Guerrero L
        • Gautier T
        • et al.
        Steroid 5α-reductase deficiency in man. An inherited form of male pseudohermaphroditism.
        in: Bergsma D Genetic Forms of Hypogonadism. Stratton Intercontinental Medical Book Corporation, New York1975: 91
        • Mattingly D
        A simple fluorimetric method for the estimation of free 11-hydroxycorticoids in human plasma.
        J Clin Pathol. 1962; 15: 324
        • Naftolin F
        • Judd H.L.
        • Yen S.S.C.
        Pulsatile patterns of gonadotropins and testosterone in man: The effects of clomiphene with and without testosterone.
        J Clin Endocrinol Metab. 1973; 36: 285
        • Peterson R.E.
        • Wyngaarden J.B.
        • Guerra S.L.
        • Brodie B.B.
        • Bunin J.J.
        The physiological disposition and metabolic fate of hydrocortisone in man.
        J Clin Invest. 1955; 34: 1779
        • Peterson R.E.
        Determination of urinary neutral 17-ketosteroid.
        in: 13th ed. Standard Method in Clinical Chemistry. vol 4. Academic Press, New York1963
        • Beling C.G.
        Purification of urinary conjugated oestrogens by gel filtration.
        Nature (London). 1961; 192: 326
        • Bongiovanni A.M.
        • Eberlein W.R.
        Critical analysis for measurement of pregnane-3-alpha, 17 alpha, 20-alpha-triol in human urine.
        Anal Chem. 1958; 30: 388
        • Klopper A
        • Michie E.A.
        • Brown J.B.
        A method for the determination of urinary pregnanediol.
        J Endocrinol. 1955; 12: 209
        • Hachiya T
        • Ochi Y
        • Miyazaki T
        • Shiomi K
        • Yoshimura M
        • Okamoto K
        The determination of serum T3 (triiodothyronine) by a radioimmunoassay method.
        Jap J Nucl Med. 1973; 10: 457
        • Weinstein A
        • Lindner H.R.
        • Friedlander A
        • Bauminger S
        Antigenic complexes of steroid hormones formed by coupling to protein through position 7. Preparation from Δ4-3-oxosteroids and characterization of antibodies to testosterone and androstenedione.
        Steroids. 1972; 20: 789
        • Bauminger S
        • Kohen F
        • Lindner H.R.
        Steroids as haptens. Optimal design of antigens for the formation of antibodies to steroid hormones.
        J Steroid Biochem. 1974; 5: 739
        • Horton R
        • Tait J.F.
        Androstenedione production and interconversion rates measured in peripheral blood and studies on the possible sites of its conversion to testosterone.
        J Clin Invest. 1966; 45: 301
        • Peterson R.E.
        • Eilers E.A.
        The use of labeled acetic anhydride in steroid assays.
        in: Proceedings of the International Congress of Endocrinology, Amsterdam13th ed. Excerpta Medica International Congress Series 83. 1964: 267
        • Gandy H.M.
        • Peterson R.E.
        Measurement of testosterone and 17-ketosteroids in plasma by the double isotope dilution derivative technique.
        J Clin Endocrinol Metab. 1968; 28: 949
        • Ito T
        • Horton R
        The source of plasma dihydrotestosterone in man.
        J Clin Invest. 1971; 50: 1621
        • Mahoudeau J.A.
        • Bardin C.W.
        • Lipsett M.B.
        The metabolic clearance rate and origin of plasma dihydrotestosterone in man and its conversion to the 5α-androstanediols.
        J Clin Invest. 1971; 50: 1338
        • Tremblay R.R.
        • Kowarski A
        • Park L
        • Migeon C.J.
        Blood production rate of dihydrotestosterone in the syndrome of male pseudohermaphroditism with testicular feminization.
        J Clin Endocrinol Metab. 1972; 35: 101
        • Saez J.M.
        • Forest M.G.
        • Morera A.M.
        • Bertrand J
        Metabolic clearance rate and blood production rate of testosterone and dihydrotestosterone in normal subjects, during pregnancy, and in hyperthyroidism.
        J Clin Invest. 1972; 51: 1226
        • Jost A
        Problems of fetal endocrinology: The gonadal and hypophyseal hormones.
        Recent Prog Horm Res. 1953; 8: 379
        • Reyes F.L.
        • Boroditsky R.S.
        • Winter J.S.D.
        • Faiman C
        Studies on human sexual development. II. Fetal and maternal serum gonadotropin and sex steroid concentrations.
        J Clin Endocrinol Metab. 1974; 38: 612
        • Reyes F.L.
        • Winter J.S.D.
        • Faiman C
        Studies on human sexual development. I. Fetal gonadal and adrenal sex steroids.
        J Clin Endocrinol Metab. 1973; 37: 74
        • Abramovich D.R.
        • Rowe P
        Foetal plasma testosterone levels at mid-pregnancy and at term: Relationship to foetal sex.
        J Endocrinol Metab. 1973; 56: 621
        • Josso N
        Permeability of membranes to the Mullerian-inhibiting substance synthesized by the human fetal testes in vitro. A clue to its biochemical nature.
        J Clin Endocrinol Metab. 1972; 34: 265
        • Blanchard M.G.
        • Josso N
        Source of the anti-Mullerian hormone synthesized by the fetal testis. Mullerian-inhibiting activity of fetal bovine sertoli cells in tissue culture.
        Pediatr Res. 1974; 8: 968
        • Wilson J.D.
        Metabolism of testicular androgens.
        in: 13th ed. Handbook of Physiology. vol V. American Physiological Society, Washington, D.C.,1974: 491 (chapt 25)
        • Wilson J.D.
        • Lasnitzki I
        Dihydrotestosterone formation in fetal tissues of the rabbit and rat.
        Endocrinology. 1971; 89: 659
        • Siiteri P.K.
        • Wilson J.D.
        Testosterone formation and metabolism during male sexual differentiation in the human embryo.
        J Clin Endocrinol Metab. 1974; 38: 113
        • Sulcova J
        • Nirasek J.E.
        • Starka L
        Transformation of testosterone into dihydrotestosterone by the primordia of human genitalia and by the fetal suprascapular skin.
        Steroid Lipid Res. 1973; 4: 129
        • Flamigni C
        • Collins W.P.
        • Koullapin E.N.
        • Craft L
        • Dewhurst C.J.
        • Sommerville I.F.
        Androgen metabolism in human skin.
        J Clin Endocrinol Metab. 1971; 32: 737
        • Ito T
        • Horton R
        Dihydrotestosterone in human peripheral plasma.
        J Clin Endocrinol Metab. 1970; 31: 362
        • Barberia J.M.
        • Thorneycroft I.H.
        Simultaneous radioimmunoassay of testosterone and dihydrotestosterone.
        Steroids. 1974; 23: 5
        • Parker C.R.
        • Ellegood J.O.
        • Mahesh V.B.
        Methods for multiple steroid radioimmunoassay.
        J Steroid Biochem. 1975; 6: 1
        • Pirke K.M.
        • Doerr P
        Plasma dihydrotestosterone in normal adult males and its relation to testosterone.
        Acta Endocrinol. 1975; 79: 357
        • Kowarski A
        • Blizzard R.M.
        • Jones Jr, H.W.
        • Migeon C.J.
        Plasma concentration of testosterone, dihydrotestosterone, testosteroneoestradiol binding globulin, and pituitary gonadotrophins in the syndrome of male pseudo-hermaphroditism with testicular feminization.
        Acta Endocrinol. 1972; 70: 331
        • Judd H.L.
        • Hamilton C.R.
        • Barlow J.J.
        • Yen S.S.C.
        • Kliman B
        Androgen and gonadotropin dynamics in testicular feminization syndrome.
        J Clin Endocrinol Metab. 1972; 34: 229
        • Faiman C
        • Winter J.S.D.
        The control of gonadotropin secretion in complete testicular feminization.
        J Clin Endocrinol Metab. 1974; 39: 631
        • French F.S.
        • Van Wyk J.J.
        • Baggett B
        • Easterling W.E.
        • Talbert L.M.
        • Johnston F.R.
        • Forchielli E
        • Dey A.C.
        Further evidence of a target organ defect in the syndrome of testicular feminization.
        J Clin Endocrinol Metab. 1966; 26: 493
        • Mauvais-Jarvis P
        • Crepy O
        • Bercovici J.P.
        Further studies on the pathophysiology of testicular feminization syndrome.
        J Clin Endocrinol Metab. 1971; 32: 568
        • Naftolin F
        • Ryan K.J.
        • Petro Z
        Aromatization of androstenedione by the anterior hypothalamus of adult male and female rats.
        Endocrinology. 1972; 90: 295
        • Reddy V.V.R.
        • Naftolin F
        • Ryan K.J.
        Aromatization in the central nervous system of rabbits. Effects of castration and hormone treatment.
        Endocrinology. 1973; 92: 589
        • Zansi M
        • Motta M
        • Martini L
        Inhibitory effect of 5α-reduced metabolites of testosterone on gonadotrophin secretion.
        J Endocrinol. 1973; 56: 315
        • Massa R
        • Stupnick E
        • Kniewald Z
        • Martini L
        The transformation of testosterone into dihydrotestosterone by the brain and the anterior pituitary.
        J Steroid Biochem. 1972; 3: 385
        • Naess O
        • Attramadial A
        • Aakvaag A
        Androgen binding proteins in the anterior pituitary, hypothalamus, preoptic area and brain cortex of the rat.
        Endocrinology. 1975; 96: 1
        • Swerdloff R.S.
        • Walsh P.C.
        • Odell W.D.
        Control of LH and FSH secretion in the male. Evidence that aromatization of androgens to estradiol is not required for inhibition of gonadotropin secretion.
        Steroids. 1972; 20: 13
        • Santen R.J.
        Is aromatization of testosterone to estradiol required for inhibition of LH secretion in men?.
        J Clin Invest. 1975; 56: 1555
        • Steward-Bentley M
        • Odell W
        • Horton R
        Feedback control of luteinizing hormone in normal adult men.
        J Clin Endocrinol Metab. 1974; 38: 545
        • Sherins R.J.
        • Loriauz D.L.
        Studies on the role of sex steroids in the feedback control of FSH concentrations in men.
        J Clin Endocrinol Metab. 1973; 36: 886
        • Sherins R.J.
        • Gandy H.M.
        • Thorslund T.W.
        • Paulsen C.A.
        Pituitary and testicular function studies. I. Experience with a new gonadal inhibitor, 17α-pregn-4-en-20-yno-(2,3-d) isoxazol-17-ol (Danazol).
        J Clin Endocrinol Metab. 1965; 25: 476
        • Davis T.E.
        • Lipsett M.B.
        • Korenman S.G.
        Suppression of testosterone production by physiologic doses of 2α-methyldihydrotestosterone propionate.
        J Clin Endocrinol Metab. 1965; 25: 476
        • Lee P.A.
        • Hoffman W.H.
        • White J.J.
        • et al.
        Serum gonadotropins in cryptorchidism. An indicator of functional testes.
        Am J Dis Child. 1974; 127: 530
        • Bramble F.J.
        • Houghton A.L.
        • Eccles S
        • et al.
        Reproductive and endocrine function after surgical treatment of bilateral cryptorchidism.
        Lancet. 1974; 2: 311
        • Peterson R.E.
        Christy N Metabolism of Adrenal Cortical Steroids. Harper & Row, New York1971: 87
        • McGuire Jr, J.S.
        • Tomkins G.M.
        The effects of thyroxin administration on the enzymic reduction of Δ4-3-ketosteroids.
        J Biol Chem. 1959; 234: 791
        • McGuire J.S.
        • Hollis V.W.
        • Tomkins G.M.
        Some characteristics of the microsomal steroid reductases (5α) of rat liver.
        J Biol Chem. 1960; 235: 3112
        • Forchielli E
        • Ramachandran S
        • Ringold H.J.
        The soluble steroid Δ4-hydrogenase of female rat liver.
        Steroids. 1963; 1: 157
        • Rivarola M.A.
        • Singleton R.T.
        • Migeon C.J.
        Splanchnic extraction and interconversion of testosterone and androstenedione in man.
        J Clin Invest. 1967; 46: 2095
        • Baulieu E
        • Mauvais-Jarvis P
        Studies on testosterone metabolism. I. Conversion of testosterone-17α-3H to 5α-and 5β-androstane-3α, 17β-diol-17α-3H: a new “17β-hydroxyl pathway”.
        J Biol Chem. 1964; 239: 1569
        • Baulieu E
        • Mauvais-Jarvis P
        Studies on testosterone metabolism. II. Metabolism of testosterone-4-14C and androst-4-ene-3, 17-diol-1,2.
        J Biol Chem. 1964; 239: 1578
        • Mauvais-Jarvis P
        • Floch H.H.
        • Bercovic J.P.
        Studies on testosterone metabolism in human subject with normal and pathological sexual differentiation.
        J Clin Endocrinol Metab. 1968; 28: 460
        • Baulieu E
        • Robel P
        Androst-5-ene-3β, 17β-diol-17α-3H to testosterone 17α-3H and 5α and 5β-androstane-3α, 17β-diol 17α-3H in vivo.
        Steroids. 1963; 2: 111
        • Mauvais-Jarvis P
        • Baulieu E
        Studies on testosterone metabolism. IV. Urinary 5α- and β-androstanediols and testosterone in normal people and hirsute women.
        J Clin Endocrinol Metab. 1965; 25: 1167
        • Mauvais-Jarvis P
        • Floch H
        • Jung I
        • et al.
        Studies on testosterone metabolism VI precursors of urinary androstanediols.
        Steroids. 1968; 11: 207
        • Mauvais-Jarvis P
        • Bercovici J.P.
        • Crepy O
        • et al.
        Studies on testosterone metabolism in subjects with testicular feminization syndrome.
        J Clin Invest. 1970; 49: 31
        • Fukushima D.K.
        • Bradlow H.L.
        • Dobriner K
        • et al.
        The fate of testosterone infused intravenously in man.
        J Biol Chem. 1954; 206: 863
        • Hellman L
        • Bradlow H.L.
        • Zumoff B
        • et al.
        Thyroid-androgen interrelations and the hypocholesterolemic effect of androsterone.
        J Clin Endocrinol Metab. 1959; 19: 936
        • Kappas A
        • Bradlow H.L.
        • Gillette P.N.
        • et al.
        Studies in porphyria. A defect in the reductive transformation of natural steroid hormones in the hereditary liver disease, acute intermittent porphyria.
        J Exp Med. 1972; 136: 1043
        • Zumoff B
        • Bradlow H.L.
        • Finkelstein J
        • et al.
        The influence of age and sex on the metabolism of testosterone.
        J Clin Endocrinol Metab. 1976; 42: 703
        • Bradlow H.L.
        • Boyar R.M.
        • O'Connor J
        • et al.
        Hypothyroidal changes in testosterone metabolism in anorexia nervosa.
        J Clin Endocrinol Metab. 1976; 43: 571
        • Vestergaard P
        • Claussen B
        Hydrolysis of urinary 17-ketosteroid conjugates and estimation of the individual 17-ketosteroids by gradient elution chromatography.
        Acta Endocrinol. 1962; 39: 1
        • Berger H
        • Fink M
        • Fritz H.J.
        • et al.
        Normal values for the various 17-oxosteroids, pregnanes and testosterone excreted in the urine of healthy boys and girls.
        Z Klin Chem Klin Biochem. 1970; 8: 354
        • Feher T
        Some aspects of the determination of individual urinary 17-oxosteroids: normal excretion.
        Clin Chim Acta. 1966; 14: 91
        • Paxton J.W.
        • Moore M.R.
        • Beattie A.D.
        • et al.
        17-oxosteroid conjugates in plasma and urine of patients with acute intermittent porphyria.
        Cl Sci Molec Med. 1974; 46: 207
        • Gupta D
        • Marshall W.A.
        A longitudinal study of the urinary excretion of individual steroids in children from 3 to 7 years old.
        Acta Endocrinol. 1971; 68: 141
        • Vestergaard P
        Urinary excretion of individual 17-ketosteroids in children.
        Acta Endocrinol. 1965; 49: 436
        • Paulsen E.P.
        • Sobel E.H.
        • Shafran M.S.
        Urinary steroid metabolites in children. I. Individual 17-ketosteroids in children with normal sexual development.
        J Clin Endocrinol Metab. 1966; 26: 329
        • Slaunwhite Jr, W.R.
        • Sandberg A.A.
        Metabolism of 4-C14-testosterone in human subjects. III. Fate of androsterone and etiocholanolone.
        J Clin Endocrinol Metab. 1958; 18: 1056
        • Fukushima D.K.
        • Bradlow H
        • Zumoff B
        • et al.
        Biotransformation of 3α-hydroxy-17-ketosteroids.
        Acta Endocrinol. 1963; 44: 453
        • Fukushima D.K.
        • Bradlow H.L.
        • Yamauchi T
        • et al.
        Studies with androsterone-3-3H, 4-14C.
        J Clin Endocrinol Metab. 1967; 17: 1208
        • Bradlow H.L.
        • Fukushima D.K.
        • Zumoff B
        • et al.
        Some aspects of the dynamics of oxidation-reduction of etiocholanolone-3-3H, 4-14C in man.
        J Clin Endocrinol Metab. 1967; 27: 1203
        • Zumoff B
        • Bradlow H.L.
        • Gallagher T.F.
        • et al.
        Decreased conversion of androgens to normal 17-ketosteroid metabolites.
        J Clin Endocrinol Metab. 1971; 32: 824
        • Bradlow H.L.
        • Zumoff B
        • Fukushima D.K.
        • et al.
        Drug induced alterations of steroid hormone metabolism in man.
        Ann NY Acad Sci. 1973; 212: 148
        • Rubinstein H.A.
        • Butler Jr, V.P.
        • Werner S.C.
        Progressive decrease in serum triiodothyronine concentrations with human aging. Radioimmunoassay following extraction of serum.
        J Clin Endocrinol Metab. 1973; 37: 247
        • Bermudez F
        • Surks M.L.
        • Oppenheimer J.H.
        High incidence of decreased serum triiodothyronine concentration in patients with nonthyroidal disease.
        J Clin Endocrinol Metab. 1975; 41: 27
        • Bradlow H.L.
        • Hellman L
        • Zumoff B
        • et al.
        Interaction of hormonal effects. Influence of triiodothyronine on androgen metabolism.
        Science. 1956; 124: 1206
        • James V.H.T.
        The excretion of individual 17-oxosteroids in Cushing's syndrome.
        J Endocrinol. 1961; 23: 119
        • Wilson H
        • Schenker S
        Effect of corticosteroids on urinary 5β and 5α C19 steroids in man.
        Acta Endocrinol. 1964; 46: 197
        • Chopra I.J.
        • Williams D.E.
        • Orgiazzi J
        • et al.
        Opposite effects of dexamethasone on serum concentrations of 3,3′,5′-triiodothyronine (reverse T3) and 3,3′,5-triiodothyronine (T3).
        J Clin Endocrinol Metab. 1975; 41: 911
        • Sassa S
        • Granick S
        • Bickers D.R.
        • et al.
        Studies in porphyria. III. A microassay for uroporphyrinogen synthetase, one of three abnormal enzyme activities in acute intermittent porphyria; and its application to the study of the genetics of this disease.
        in: 13th ed. Proc Natl Acad Sci USA. 71. 1974: 732
        • Mauzerall D
        • Granick S
        The occurrence and determination of δ-aminolaevulinic acid and porphobilinogen in urine.
        J Biol Chem. 1956; 219: 435
        • Walsh P.C.
        • Madden J.D.
        • Harrod M.J.
        • et al.
        Familial incomplete male pseudohermaphroditism, type 2. Decreased dihydrotestosterone formation in pseudo-vaginal perioneoscrotal hypospadias.
        N Engl J Med. 1974; 291: 944
        • Wilson J.D.
        Dihydrotestosterone formation in cultured human fibroblasts. Comparison of cells from normal subjects and patients with familial incomplete male pseudohermaphroditism, type 2.
        J Biol Chem. 1975; 250: 3498
        • Moore R.J.
        • Griffin J.E.
        • Wilson J.D.
        Diminished 5α-reductase activity in extracts of fibroblasts cultured from patients with familial incomplete male pseudohermaphroditism, type 2.
        J Biol Chem. 1975; 18: 7168
        • Griffin J.E.
        • Punyashthiti K
        • Wilson J.D.
        Dihydrotestosterone binding by cultured human fibroblasts. Comparison of cells from control subjects and from patients with hereditary male pseudohermaphroditism due to androgen resistance.
        J Clin Invest. 1976; 57: 1343
        • Goy R.W.
        • Wolf J.E.
        • Eisele S.G.
        Experimental pseudohermaphroditism in rhesus monkeys. Anatomical and psychological characteristics.
        in: 13th ed. Handbook of Sexology. Excerpta Medica Elsevier, 1976
        • Goldman A.S.
        • Baker M.K.
        Androgenicity in the rat fetus of metabolites of testosterone and antagonism by cyproterone acetate.
        Endocrinology. 1971; 89: 276
        • Wilson J.D.
        Testosterone uptake by the urogenital tract of the rabbit embryo.
        Endocrinology. 1973; 92: 1192
        • Josso N
        Action de la testosterone sur le canal de wolff du foetus de rat en culture organotypique.
        Arch Anat Microsc Morphol Exp. 1970; 59: 37
        • Jung I
        • Baulieu E
        Testosterone cytosol “receptor” in the rat levator ani muscle.
        Nature (Lond). 1972; 237: 24
        • Gustafsson J
        • Pousette A
        Demonstration and partial characterization of cytosol receptors for testosterone.
        Biochemistry. 1975; 14: 3095
        • Gloyna R.E.
        • Wilson J.D.
        A comparative study of the conversion of testosterone to 17β-hydroxy-5α-androstan-3-one (dihydrotestosterone) by prostate and epididymis.
        J Clin Endocrinol Metab. 1969; 29: 970
        • Giannopoulos G
        Binding of testosterone to uterine components of the immature rat.
        J Biol Chem. 1973; 248: 1004
        • Wilson J.D.
        • Walker J.D.
        The conversion of testosterone to 5α-androstan-17β-ol-one (dihydrotestosterone) by skin slices of man.
        J Clin Invest. 1969; 48: 371
        • Sitteri P.K.
        • Wilson J.D.
        • Mayfield J.A.
        Dihydrotestosterone in prostatic hypertrophy.
        J Clin Invest. 1969; 48: 371
        • Sansone G
        • Reisner R.M.
        Differential rates of conversion of testosterone to dihydrotestosterone in acne and in normal human skin—a possible pathogenic factor in acne.
        J Invest Dermatol. 1971; 56: 366
        • Fazekas A.G.
        • Lanthier A
        Metabolism of androgens by isolated human beard hair follicles.
        Steroids. 1971; 18: 367
        • Schweikert H.U.
        • Wilson J.D.
        Regulation of human hair growth by steroid hormones. I. Testosterone metabolism in isolated hairs.
        J Clin Endocrinol Metab. 1974; 38: 811
        • Neumann F
        • Von Berswordt-Wallrabe R
        • Elger W
        • et al.
        Aspects of androgen-dependent events as studied by antiandrogens.
        Recant Prog Horm Res. 1970; 26: 337
        • McDonald P
        • Beyer C
        • Newton F
        • et al.
        Failure of 5α-dihydrotestosterone to initiate sexual behaviour in the castrated male rat.
        Nature (Lond). 1970; 227: 964
        • Luttge W.G.
        • Hall N.R.
        Differential effectiveness of testosterone and its metabolites in the induction of male sexual behavior in two strains of albino mice.
        Horm Behav. 1973; 4: 31
        • Phoenix C.H.
        Effects of dihydrotestosterone on sexual behavior of castrated male rhesus monkeys.
        Physiol Behav. 1974; 12: 1045
        • Beyer C
        • de la Torre L
        • Larson K
        • et al.
        Synergistic actions of estrogen and androgen on the sexual behavior of the castrated male rabbit.
        Horm Behav. 1975; 6: 301
        • Opitz J.M.
        • Simpson J.L.
        • Sario G.E.
        • et al.
        Pseudovaginal perineoscrotal hypospadias.
        Clin Genet. 1972; 3: 1
        • Jones H.W.
        • Scott W.W.
        Familial male hermaphroditism in hermaphroditism, genital anomalies and related endocrine disorder.
        in: Williams & Wilkins Co.,, Baltimore1971: 160
        • Federman D.D.
        Abnormal sexual development. A genetic and endocrine approach to differential diagnosis.
        W.B. Saunders Co.,, Philadelphia1967
        • Givens J.R.
        • Wiser W.L.
        • Summitt R.L.
        • et al.
        Familial male pseudohermaphroditism without gynecomastia due to deficient testicular 17-ketosteroid reductase activity.
        N Engl J Med. 1974; 291: 938
        • Imperato-McGinley J
        • Peterson R.E.
        Male pseudohermaphroditism. The complexities of male phenotypic development.
        Am J Med. 1976; 61: 251