The International Journal of Romanian Society of Endocrinology / Registered in 1938

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April - June 2006, Volume 2, Issue 2
Case Report

Coculescu M, Poiana N, Raducanu-Lichiardopol C, Ionescu M

Gonadoblastoma in a patient with 46XY gonadal dysgenesis

Acta Endo (Buc) 2006, 2 (2): 227-238
doi: 10.4183/aeb.2006.227

We present a 18 year old phenotypic female patient who presented for primary amenorrhea. Pelvic ultrasound revealed a hypoplastic uterus and CT scan showed a hypoplastic right gonad and a left gonadal tumor with extrapelvic location. Karyotype was 46XY. Hormonal assessment indicated hypergonadotropic hypogonadism: FSH was 39.69 mUI/ml, estradiol was 28.07 pg/ml, testosterone was 0.17 ng/ml. DHEA level was high – 21 ng/ml. Gonadectomy was performed at 15 years and histologic examination diagnosed left gonadoblastoma and right teratoma in a dysgenetic gonad. The patient had a good postoperatory evolution. Menses were induced with estrogenic and then estroprogestogenic treatment. Plastic breast surgery was performed at 18 years. Establishing the genotypic sex in patients with primary amenorrhea represents a crucial step knowing that intersex disorders bearing Y chromosomal material have a high risk for gonadoblastoma and germ cell tumors.

Keywords: gonadoblastoma, gonadal dysgenesis

Correspondence: Mihai Coculescu, Endocrinology Department, “Carol Davila” University of Medicine and Pharmacy, 34-36 Bd. Aviatorilor, 011863, Bucharest, Romania, Phone/Fax: + 4021 3198718, e-mail: