October - December 2006, Volume 2, Issue 4

Stoicanescu D, Belengeanu V, Amzar D, Popa C, Hrubaru N, Rosianu A

Complete gonadal dysgenesis with XY chromosomal constitution

Acta Endo (Buc) 2006, 2 (4): 465-470
doi: 10.4183/aeb.2006.465

A 20-year-old woman was studied because of lack of spontaneous pubertal development and primary amenorrhea. At the moment of examination in the Medical Genetics Department she had normal height, sparse axillary and pubic hair, but breasts were well developed (she already had some estrogen therapy). She had normal but infantile external genitalia, normal vagina and small uterus. Laparoscopic investigation suggested the presence of gonadoblastoma in the dysgenetic gonads and histopathologic examination confirmed the diagnosis. The karyotype revealed a 46, XY chromosome constitution in lymphocytes, without structural defects of X or Y chromosomes. Because of the risk of malignancy, gonadectomy was performed.

Keywords: XY complete gonadal dysgenesis, 46,XY disorder of sex development, gonadoblastoma

Correspondence: Dorina Stoicanescu, Medical Genetics Department, "Victor Babes"University of Medicine and Pharmacy, P-ta E. Murgu Nr. 2, Timisoara, Tel: 0256-204476. E-mail: dstoicanescu@yahoo.com