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

• Yoon KH
• Lee YJ

• KMID: 854850
• DOI: http://doi.org/10.3343/kjlm.2008.28.2.151

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

MeSH Terms

Adult
Chromosomes, Human, Y
Female
*Gene Deletion
*Genes, sry
Gonadal Dysgenesis, 46,XY/*diagnosis/genetics
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Polymerase Chain Reaction

Figure

• 

  Fig. 1. Karyotype of the patient showing 46,XY.

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  Fig. 2. The PCR product of SRY and amelogenin. (A) The loss of SRY (170 bp) in lane 2. (B) Presence of both × and Y regions of amelogenin (Y: 354 bp, X: 538 bp) in lane 2.

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  Fig. 3. The result of FISH of X and Y chromosome. The green signals of × chromosome were present, but orange signal of Y (p11.6) was lost.

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