Korean J Lab Med.  2008 Apr;28(2):151-154. 10.3343/kjlm.2008.28.2.151.

A Case of 46,XY Pure Gonadal Dysgenesis with Loss of the Sex-Determining Region of Y Chromosome

Affiliations
  • 1Department of Laboratory Medicine, Wonkwang University Sanbon Hospital, Gunpo, Korea.
  • 2Department of Laboratory Medicine, and Institute of Wonkwang Medical Science, School of Medicine, Wonkwang University, Iksan, Korea. jin20@wonkwang.ac.kr

Abstract

A 23-yr-old phenotypic female was seen for primary amenorrhea. Her pubic hair was relatively well developed and external genitalia showed normal female appearance, but breast development was retarded. Transvaginal ultrasonographic examination showed a small uterus with indistinct streak gonads, but both ovaries were not detected. Cytogenetic study revealed 46,XY. In FISH and PCR, the sex-determining region of Y chromosome (SRY) was not detected. We report here a case of 46,XY pure gonadal dysgenesis with loss of the SRY.

Keyword

SRY; 46; XY; Pure gonadal dysgenesis; Primary amenorrhea
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