Familial Male Pseudohermaphroditism without Gynecomastia Due to Deficient Testicular 17-Ketosteroid Reductase Activity

J. R. Givens, W. L. Wiser, R. L. Summitt, I. J. Kerber, R. N. Andersen, D. E. Pittaway, S. A. Fish

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54 Scopus citations

Abstract

To evaluate possible 17-ketosteroid reductase deficiency, we studied two sisters with primary amenorrhea, hirsutism, clitoral enlargement and a 46,XY karyotype, who lacked breast development. Plasma luteinizing hormone, follicle-stimulating hormone and urinary 17-ketosteroids were elevated in both subjects. Plasma Δ4-androstenedione was seven to nine times greater than normal, whereas plasma testosterone was low or in the low-normal male range. Spermatic venous plasma of Case 2 contained increased amounts of Δ4-androstenedione and estrone and subnormal amounts of testosterone and estradiol, findings consistent with testicular 17-ketosteroid reductase deficiency. In vitro incubation of testicular tissue of Case 2 confirmed a partial defect in testicular 17-ketosteroid reductase activity and documented increased 3β-hydroxysteroid dehydrogenase activity. Failure of breast development was probably due to lower estrogen levels than in previously reported cases. We conclude that testicular 17-ketosteroid reductase deficiency may cause male pseudohermaphroditism even in the absence of gynecomastia. (N Engl J Med 291:938–944, 1974), CONGENITAL deficiency of testicular enzymes essential for the synthesis of testosterone results in failure of development of normal male genitalia.1 2 3 4 A recently described testicular enzymatic deficiency causing male pseudohermaphroditism concerns 17-ketosteroid reductase (17-KSR), which converts Δ4-androstenedione (A) to testosterone (T) and estrone (E1) to estradiol (E2).5 Breast development has been present in all published cases.5 6 7 8 9 10 The two siblings with defective testicular reduction of A to T did not have breast development. These cases have been previously reported as examples of pseudovaginal perineoscrotal hypospadias.11 Case Histories Two sisters were seen at the ages of 18 (Case.

Original languageEnglish (US)
Pages (from-to)938-944
Number of pages7
JournalNew England Journal of Medicine
Volume291
Issue number18
DOIs
StatePublished - Oct 31 1974

ASJC Scopus subject areas

  • Medicine(all)

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