SRY Mutation and Tumor Formation on the Gonads of XY Pure Gonadal Dysgenesis Patients

Complete XY gonadal dysgenesis and aspects of the SRY genotype and gonadal tumor formation

“…We have previously reported finding SRY abnormalities in two out of three patients with the complete form of XY gonadal dysgenesis (Uehara et al 1999); thus, the final proportion of SRY aberrations was 67% (four of six patients). While this proportion is much higher than that observed in previous reports (Table 2), our result was similar (60%; three in five patients) to that reported by Hawkins et al (1992a), who also analyzed only patients with the complete form.…”

“…However, it is not known whether prophylactic gonadectomy is necessary for all patients with the disease. We have previously identified two SRY aberrations (a cryptic deletion of a region of Yp that includes SRY, and a mutation consisting of a 2-base substitution and a 7-base deletion) from three patients with the complete form of XY gonadal dysgenesis (Uehara et al 1999), and speculated that these aberrations were associated with gonadal tumors. We have now examined for SRY mutations three additional independent patients with the complete form of the disease.…”

Swyer’s Syndrome: In a Fifty-Year-Old Female

“…gonadoblastoma, dysgerminoma, and hilar cell adenoma, is increased in the presence of streak gonads. Because of this increased risk, removal of gonads is fundamental in the treatment of disease [13][14][15]. All germ cell tumors including gonadoblastomas and dysgerminomas have been frequently demonstrated in patients with Swyer's syndrome and cases of gonadal dysgenesis with a Y chromosome [14].…”

“…All germ cell tumors including gonadoblastomas and dysgerminomas have been frequently demonstrated in patients with Swyer's syndrome and cases of gonadal dysgenesis with a Y chromosome [14]. It has been suggested that SRY may play a role in the formation of gonadal tumours in pure gonadal dysgenesis patients [15].…”

Swyers Syndrome: primary amenorrohea with gonadal dysgenesis a rare cause

“…Because 10-30% risk for gonadal tumour occurrence is reported with the presence of the Y chromosome. That risk, increases with age; it is reported that the risk is 50-70% in the third decade while being as high as 80% in the fourth (7). Among the tumours, gonadoblastoma and dysgerminoma are the most prevalent.…”