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Previous Volume 336:994-998 April 3, 1997 Number 14 Next

Paternity by Intrauterine Insemination with Sperm from a Man with 5-Reductase-2 Deficiency

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Male pseudohermaphroditism results from the abnormal differentiation of male external genitalia in a genotypic male. One cause of male pseudohermaphroditism is a deficiency of 5-reductase-2, the enzyme that converts testosterone to 5-dihydrotestosterone in specific androgen-dependent target tissues.^1,2,3

Males who are homozygous for the disorder usually present with pseudovaginal perineoscrotal hypospadias at birth. Most have distinct urethral and vaginal openings within a urogenital sinus and a clitoris-like phallus. Virilization occurs at puberty with phallic growth, rugation and pigmentation of the scrotum, and testicular descent.^1,2,3 At this time, the voice deepens and muscle mass increases, with the development of a . . . [Full Text of this Article]

Case Report

Methods

Plasma Androgen Concentrations

Semen Collection and Analysis

Semen Preparation

Intrauterine Insemination

Genetic Studies

Results

Plasma Androgen Concentrations and Testicular Biopsy

Semen Analyses, Intrauterine Insemination, and Pregnancies

Genetic Studies of Offspring

Discussion

Source Information

From the Division of Endocrinology, Department of Medicine (M.D.K., L.-Q.C., Y.-S.Z., C.M.F., J.I.-M.), the Center for Reproductive Medicine and Infertility, Department of Obstetrics and Gynecology (I.K., Z.R.), and the Division of Maternal–Fetal Medicine, Department of Obstetrics and Gynecology (I.Z.), Cornell University Medical College, New York. Presented in part at the 10th International Congress of Endocrinology, San Francisco, June 13, 1996.

Address reprint requests to Dr. Imperato-McGinley at Cornell University Medical College, 1300 York Ave., Rm. F-263, New York, NY 10021.

References

This article has been cited by other articles:

• Fernandez-Cancio, M., Nistal, M., Gracia, R., Molina, M. A., Tovar, J. A., Esteban, C., Carrascosa, A., Audi, L. (2004). Compound Heterozygous Mutations in the SRD5A2 Gene Exon 4 in a Male Pseudohermaphrodite Patient of Chinese Origin. J Androl 25: 412-416 [Abstract] [Full Text]  
• Migeon, C. J., Wisniewski, A. B., Brown, T. R., Rock, J. A., Meyer-Bahlburg, H. F. L., Money, J., Berkovitz, G. D. (2002). 46,XY Intersex Individuals: Phenotypic and Etiologic Classification, Knowledge of Condition, and Satisfaction With Knowledge in Adulthood. Pediatrics 110: e32-32 [Abstract] [Full Text]  
• Nordenskjöld, A., Ivarsson, S.-A. (1998). Molecular Characterization of 5{alpha}-Reductase Type 2 Deficiency and Fertility in a Swedish Family. J. Clin. Endocrinol. Metab. 83: 3236-3238 [Abstract] [Full Text]