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Korean Journal of Obstetrics & Gynecology 1998;41(8):2216-2219.
Published online January 1, 2001.
A Case of Sex-Reversed Male.
Y S Nam, H J Kim, S H Lee, I P Kwak, T K Yoon, K Y Cha
The incidence of XX male reversal is approximately 1 in 20,000 to 1 in 24,000 male births, a rare disorder. The affected individuals are non-ambiguous at birth with normal male phenotype. They have a 46,XX karyotype, are chromatin positive, and may also be H-Y antigen positive. This group of patients have been key in isolating the gene controling the formation of the testis. By restriction enzyme fragmentation of the X chromosomes and the use of DNA probes, it has been shown that the majority of the XX sex-reversed males contain fragment of DNA from the short arm of the Y chromosome in the distal end of the short arm of the X chromosome. These patients have exclusively testicular tissue and develop the wolffian system while the mullerian duct regress. The external genitalia are of nonambiguous male phenotype, very similar to Klinefelter`s syndrome, but there is a more frequent association with hypospadias and an average height below normal. The testes are small and firm but bilaterally descended. The penile length is normal or slightly shorter than normal, and these patients also develop gynecomastia and hyalinization of the seminiferous tubules at puberty with incomplete pubarche. Infertility occurs secondary to hypogonadism. We have experienced a case of sex-reversed male in azoospermic patient. So we report this case with a brief review of literatures.
Key Words: Sex-reversed male, Azoospermia

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