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Y-chromosome FISH

Friday 9 December 2011

Gonadal specimens

To evaluate fluorescence in situ hybridization (FISH) for SRY, the testis-determining gene on the Y-chromosome, in gonadal specimens from patients with intersex disorders including two older individuals presenting with Sertoli cell adenomas and clinically unsuspected androgen insensitivity syndrome (AIS).

The demonstration of SRY using FISH is useful in the assessment of gonadal specimens from patients with intersex disorders, particularly in older individuals where the diagnosis may be unsuspected clinically. However, it may be necessary to examine multiple specimens in some cases to confirm the presence of Y-chromosomal material.

References

- Detection of Y-chromosome in gonadal tumours using fluorescence in situ hybridization: diagnostic value in intersex conditions including older patients with clinically unsuspected androgen insensitivity syndrome. Stewart CJ, Baker E, Beaton C, Crook M, Peverall J, Wallace S. Histopathology. 2008 Jan;52(2):175-82. PMID: 18184266