Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2011) 26 P596

ECE2011 Poster Presentations Clinical case reports (73 abstracts)

Conservative or radical approach in patients with 46 XY disorders of sex development?

C S Martin 1, , S Fica 1, , A Miron 1, , C Giulea 1 , D Terzea 3 , S Enache 3 , F Andrei 1 & C Nitipir 1


1Elias Hospital, Bucharest, Romania; 2Carol Davila University of Medicine and Pharmacy, Bucharest, Romania; 3Victor Babes National Institute, Bucharest, Romania.


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 40–60% 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.

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