[Genetic analysis and pathological features of one 46,XX testicular disorder of sex development cases with prostate germ cell tumor].

OBJECTIVE

To analyze the clinical and genetic characteristics of a 46,XX case of testicular disease with prostate germ cell tumor and explore its pathogenesis.

METHODS

The clinical features and pathological examination of the patient were reviewed, and the genetic basis was analyzed by chromosome karyotyping analysis and fluorescence in situ hybridization.

RESULTS

The patient had slightly short stature, small testicles and large breast. Serum alpha fetoprotein was significantly increased, along with increased follicle stimulating hormone, luteinizing hormone and prolactine, and lower level of testosterone. The karyotype was 46,XX. Fluorescence in situ hybridization has identified the presence of SRY gene at the end of short arm of one X chromosome. The pathological diagnosis was primary germ cell tumor of prostate, mainly of yolk sac tumor type.

CONCLUSION

A rare case of 46,XX testicular disorder of sex development combined with germ cell tumor of the prostate was diagnosed, which has enriched the phenotype spectrum of the disease and provided clues for the treatment of the disease.