Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
A Rare Case of 46, XX True Hermaphroditism with Hidden Mosaicism with Sex-determining Region Y Chromosome-bearing Cells in the Gonads
Hisako INDUEMasatoshi NOMURAToshihiko YANASEIsao ICHINOKiminobu GOTOShouichiro IKUYAMARyouichi TAKAYANAGIHajime NAWATA
著者情報
キーワード: sex differentiation, ovotestis
ジャーナル フリー

1998 年 37 巻 5 号 p. 467-471

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The sex-determining region Y chromosome (SRY) triggers testis determination. We report a 46, XX true hermaphrodite who had ambiguous genitalia at birth. A laparotomy at one year of age revealed this patient to have a testis on the right side and an ovotestis on the left side. By polymerase chain reaction analysis no SRY was detected in the DNA from the leukocytes but it was found in the DNA from the ovotestis. The hidden mosaicism with the Y-bearing cells in the gonads is likely the cause of the dual gonads in this patient.
(Internal Medicine 37: 467-471, 1998)

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© The Japanese Society of Internal Medicine
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