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Case Report

Swyer Syndrome with Gonadoblastoma: A Rarity of Two Case Reports

Saloni Bansal, Neena Malhotra, Vatsla Dhadwal, Deepika Deka, Rajiv Mahendru

Correspondence Address :

Dr. Rajiv Mahendru
Professor and Head, Department of Obstetrics and Gynaecology
BPS Government Medical College for Women
Khanpur Kalan (Sonepat), Haryana
India
Tel: 91 9416086483
Email: dr.rmahendru@gmail.com

Received on: April 18, 2015, Accepted on: May 05, 2015, Published on: May 21, 2015

Citation: Bansal S, Malhotra N, Dhadwal V, Deka D, Mahendru R (2015). Swyer Syndrome with Gonadoblastoma: A Rarity of Two Case Reports

Copyright: 2015 Bansal S, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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Abstract

Fulltext

Introduction

Pure gonadal dysgenesis describes conditions with normal sets of sex chromosomes (46XX, 46XY). 46XX pure gonadal dysgenesis also termed as Swyer syndrome. First described by doctor Swyer in 1955. The incidence of Swyer syndrome is 1:100.000 [1]. They are phenotypically females with unambiguously female genital appearance from birth and normal Mullerian structures. The patients usually presents at puberty with primary amenorrhea. Germ line tumors (gonadoblastoma, dysgerminoma, seminoma) can be found in one third of cases with 10% risk of metastasis [2]. Here, we report two cases of dysgerminoma in patients with Swyer syndrome.

Case Report

Patient X, 20 years presented to us with primary amenorrhoea and absent secondary sexual characteristics. There was no history of cyclical pain abdomen. On examination she was tall, thin built with height-163 cm and weight-42 kg. Breast and pubic hair were Tanner stage I-II. On per abdomen examination there was no mass palpable. Local examination revealed normal external genitalia but with blind vagina of 4 cm. A firm mass of 5x6 cm was felt anteriorly, on per rectal examination which was non tender and mobile.

On ultrasound a 7x5 cm gonadal mass was seen but uterus and ovaries could not be visualized. Contrast CT revealed a well differentiated solid-cystic lesion of 6x9x9 cm extending into the right adnexal region, uterus and ovaries were not seen separately. All the tumor markers [α feto protein (1.08), CA-125 (7.9) and β Human Chorionic Gonadotrophin (1.6)] were negative. Hormone profile suggested a hypergonadotrophic hypogonadism profile with Follicle Stimulating Hormone of 89 and Leutinizing Hormone of 22IU/L. To support the diagnosis karyotype was done, which was 46 XY. With informed and written consent she underwent exploratory laparotomy with peritoneal wash cytology with bilateral sapingectomy with bilateral gonadectomy along with infracolic omentectomy (Figure 1).   

Intraoperatively there was right gonadal tumor of size 7x5 cm with left streak gonad and rudimentary tubes and uterus. There was no ascitis, organ involvement or enlarged lymph nodes. The disease was stage Ia carcinoma ovary. On cut-section gonadal tumor did not show areas of haemorrhage, necrosis or calcification. Final histopathology report came out as, gonadal tumor showing features of dysgerminoma and the other sent as streak gonad had scant ovarian stroma along with fibroadipose tissue, rest was free of tumor. She did not require chemotherapy further. Patient is under regular follow-up and has been put on oestrogen-progesterone combination, doing well presently.

References


1. Vollrath D, Foote S, Hilton A, Page DC. The human Y chromosome Swyer GIM. Male Pseudohermaphroditism: A Hitherto Under scribed Form. Br. Med 1995;2:709-712.

2. Ben Romdhane K, Bessrour A, Ben Amor MS, Ben Ayed M. Pure gonadal dysgenesis with 46 XY karyotyping (Swyer's syndrome) with gonadoblastoma, dysgerminoma and embryonal carcinoma. Bull Cancer. 1988;75(3):263-269.

3. Holder M, Hecker W. Intersexuality and malignancy. Case report of an unreported association between a malignant disease in a child with androgen resistance syndrome in comparison with the most frequently expected malignant tumors in children with intersexuality. Klin Padiatr. 1994;206(1):50-54.

4. Coutin AS, Hamy A, Fondevilla M, et al. Pure 46XY gonadal dysgenesis. J Gynecol Obstet Biol Reprod (Paris). 1996;25(8):792-796.

5. Casey AC, Bhodauria S, Shapter A, et al. Dysgerminoma: the role of conservative surgery. Gynecol Oncol.1996;63(3):352-357.



 


 


 

Tables & Figures
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Figure 1: Intraoperative appearance of right gonadal tumour.

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USG-14x6x10 cm multilobulated lesion in pelvis, uterus and ovaries not seen separately

Figure 2: Gonadectomy and infracolic omantectomy.

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Figure 3: Ultrasonography finding of 14x6x10 cm of multiloculated lesion in pelvis.








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