A Rare Case of 46, XX True Hermaphroditism with Hidden Mosaicism with Sex-determining Region Y Chromosome-bearing Cells in the Gonads

Hisako INDUE; Masatoshi NOMURA; Toshihiko YANASE; Isao ICHINO; Kiminobu GOTO; Shouichiro IKUYAMA; Ryouichi TAKAYANAGI; Hajime NAWATA

doi:10.2169/internalmedicine.37.467

Hisako INDUE, Masatoshi NOMURA, Toshihiko YANASE, Isao ICHINO, Kiminobu GOTO, Shouichiro IKUYAMA, Ryouichi TAKAYANAGI, Hajime NAWATA

Author information

Hisako INDUE
The Third Department of Internal Medicine, Faculty of Medicine, Kyushu University
Masatoshi NOMURA
The Third Department of Internal Medicine, Faculty of Medicine, Kyushu University
Toshihiko YANASE
The Third Department of Internal Medicine, Faculty of Medicine, Kyushu University
Isao ICHINO
The Third Department of Internal Medicine, Faculty of Medicine, Kyushu University
Kiminobu GOTO
The Third Department of Internal Medicine, Faculty of Medicine, Kyushu University
Shouichiro IKUYAMA
The Third Department of Internal Medicine, Faculty of Medicine, Kyushu University
Ryouichi TAKAYANAGI
The Third Department of Internal Medicine, Faculty of Medicine, Kyushu University
Hajime NAWATA
The Third Department of Internal Medicine, Faculty of Medicine, Kyushu University

Keywords: sex differentiation, ovotestis

JOURNAL FREE ACCESS

1998 Volume 37 Issue 5 Pages 467-471

DOI https://doi.org/10.2169/internalmedicine.37.467

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Abstract

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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