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

Abstract

Aims: 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). Methods and results: FISH, using probes for SRY and the X-centromere, was performed on two Sertoli cell adenomas presenting as ovarian masses in phenotypic females aged 62 and 73 years with previously undiagnosed AIS. Gonadal biopsies and tumours from eight additional patients with known intersex disorders and XY phenotype were also studied. Signal for SRY was demonstrated in at least one specimen from all patients, and from 16/18 (89%) specimens overall. The specificity of FISH was determined by analysis of 10 sporadic ovarian tumours including six dysgerminomas and four Sertoli-Leydig cell tumours: all cases expressed a female XX chromosomal signal. Conclusions: 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