monosomy X-associated gonadoblastoma

The identification of Y-chromosome material is important in females with Ullrich-Turner syndrome (UTS) due to the risk of developing gonadoblastoma or other gonadal tumors.

There is controversy regarding the frequency of the Y-chromosome-derived material and the occurrence of gonadoblastoma in these patients.

In a series (15880570), Y-chromosome material was found in 14 patients (8%): 12 of these were gonadectomized (2.8-25.9 years). A gonadoblastoma was detected in four patients under 16 years of age: in two, Y-material was detected only at molecular analysis (at conventional cytogenetic analysis, one was included in the 45,X group and one in the X + mar group) and one had also an immature teratoma and an endodermal sinus carcinoma.

The prevalence of gonadoblastoma in this series of gonadectomized UTS patients with Y-positive material was of 33.3% (4/12).

It suggests that the age of appearance and the possibility of malignant degeneration of gonadoblastoma can occur early in life.

These patients, in particular those with 45,X or a marker chromosome may benefit from molecular screening to detect the presence of Y-chromosome material; PCR is a rapid and inexpensive technique.

At the moment, laparoscopy and preventive gonadectomy performed as soon as possible remain the procedures of choice for patients with UTS, when Y-chromosome has been identified, as we are still unable to predict a future malignant evolution of gonadoblastoma.

References

 Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. Mazzanti L, Cicognani A, Baldazzi L, Bergamaschi R, Scarano E, Strocchi S, Nicoletti A, Mencarelli F, Pittalis M, Forabosco A, Cacciari E. Am J Med Genet A. 2005 Jun 1;135(2):150-4. PMID: 15880570