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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Abstract

To evaluate the authors possible 17-ketosteroid reductase deficiency, the authors 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 Δ 4-androstenedione was seven to nine times greater than normal, whereas plasma testosterone was low or in the low to normal male range. Spermatic venous plasma of Case 2 contained increased amounts of ± 4-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. This concluded that testicular 17-ketosteroid reductase deficiency may cause male pseudohermaphroditism even in the absence of gynecomastia.

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

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17-Hydroxysteroid Dehydrogenases
XY Disorders of Sex Development 46
Gynecomastia
Androstenedione
Testosterone
Breast
3-Hydroxysteroid Dehydrogenases
17-Ketosteroids
Hirsutism
Estrone
Amenorrhea
Follicle Stimulating Hormone
Luteinizing Hormone
Karyotype
Spermatozoa
Estradiol
Estrogens
Reference Values

ASJC Scopus subject areas

  • Medicine(all)

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Givens, J. R., Wiser, W. L., Summitt, R. L., Kerber, I. J., Andersen, R. N., Pittaway, D. E., & Fish, S. A. (1974). Familial male pseudohermaphroditism without gynecomastia due to deficient testicular 17 ketosteroid reductase activity. New England Journal of Medicine, 291(18), 938-944.

Familial male pseudohermaphroditism without gynecomastia due to deficient testicular 17 ketosteroid reductase activity. / Givens, J. R.; Wiser, W. L.; Summitt, R. L.; Kerber, I. J.; Andersen, R. N.; Pittaway, D. E.; Fish, S. A.

In: New England Journal of Medicine, Vol. 291, No. 18, 1974, p. 938-944.

Research output: Contribution to journalArticle

Givens, JR, Wiser, WL, Summitt, RL, Kerber, IJ, Andersen, RN, Pittaway, DE & Fish, SA 1974, 'Familial male pseudohermaphroditism without gynecomastia due to deficient testicular 17 ketosteroid reductase activity', New England Journal of Medicine, vol. 291, no. 18, pp. 938-944.
Givens, J. R. ; Wiser, W. L. ; Summitt, R. L. ; Kerber, I. J. ; Andersen, R. N. ; Pittaway, D. E. ; Fish, S. A. / Familial male pseudohermaphroditism without gynecomastia due to deficient testicular 17 ketosteroid reductase activity. In: New England Journal of Medicine. 1974 ; Vol. 291, No. 18. pp. 938-944.
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