Introduction: The risk for the development of germ cell tumors is hard to predict in patients with disorders of sex development (DSD) and their optimal management has been a continuous matter of debate. The risk varies between unknown and 4060% in Denys-Drash/Frasier syndrome. This malignant potential opposes itself firmly to the recent interest in a more conservative approach regarding gonadectomy.
Case presentation: We present the case of a 20-years old phenotypic female, diagnosed at birth with 46 XY DSD, and clitoromegaly (clitoroplasty at 12-months old). She presented to our clinic in July 2010; no personal/ family history, BMI 29 kg/m2, height=172 cm, android habitus, feminine secondary sexual development, acne, hirsutism, euthyroid (TSH=1.22 μUI/ml, FT4=1.29 ng/dl, ATPO=14.7 UI/ml), DHEAS=449.4 μg/dl, total testosterone=8.13 nmol/l, low AMH=0.26 μg/l (N for males 2-5), 17OHprogesterone=1.8 ng/dl, estradiol=127.1 pmol/l, FSH=17 mUI/l, LH=10 mUI/l, slightly elevated LDH=217 U/l, normal tumor markers: CA125=14.9 U/ml, CEA=1.4 ng/ml, αFP=1.13 ng/ml, total hCG=1.1 mUI/ml. Abdominal IRM gadolinium enhanced: normal adrenal glands, 5/1.7/4.6 cm uterus, 9 mm endometrium, and two parauterin 2/1 cm and 2.3/1.5 cm gonadal structures. We decided total anexectomy; the histopathology exam diagnosed mixt ovarian and testicular structures, dysgerminoma associated to gonadoblastoma, mixt tumor of germinal cells and sex cordons; IHC: CD117 positive in dysgerminoma cells, CD30 negative, CK7 negative, INHIBIN positive in sex cordon tumor cells, EMA negative, Ki67 positive in 15% of tumor cells. The patient was referred to the oncology department.
Conclusion: In view of the limited patient numbers, an intense and multicenter collaboration is needed. We need safe, evidence- based protocols for a definitively revised management of patients with DSD.
30 Apr - 04 May 2011
European Society of Endocrinology