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LETTER TO EDITOR Table of Contents   
Year : 2010  |  Volume : 53  |  Issue : 2  |  Page : 376-378
Bilateral gonadoblastomas with unilateral dysgerminoma in a case of 46 XY Pure Gonadal Dysgenesis (Swyer syndrome)


Department of Pathology, Seth G. S. Medical College & KEM Hospital, Tata Memorial Hospital, Mumbai, Maharashtra, India

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Date of Web Publication12-Jun-2010
 

How to cite this article:
Fernandes GC, Sathe PA, Naik LP, Kane SV. Bilateral gonadoblastomas with unilateral dysgerminoma in a case of 46 XY Pure Gonadal Dysgenesis (Swyer syndrome). Indian J Pathol Microbiol 2010;53:376-8

How to cite this URL:
Fernandes GC, Sathe PA, Naik LP, Kane SV. Bilateral gonadoblastomas with unilateral dysgerminoma in a case of 46 XY Pure Gonadal Dysgenesis (Swyer syndrome). Indian J Pathol Microbiol [serial online] 2010 [cited 2019 Nov 20];53:376-8. Available from: http://www.ijpmonline.org/text.asp?2010/53/2/376/64292


Sir,

46 XY pure gonadal dysgenesis (Swyer Syndrome) is a rare disorder of sexual differentiation described by Swyer in 1955. These patients are phenotypic females with varying clinical features, normal Mullerian structures, hypoplastic gonads and absent testicular tissue. Patients with 46 XY pure gonadal dysgenesis are at a higher risk of developing gonadoblastomas and other germ cell tumors.

A 22-year-old patient with female phenotype presented with primary infertility of three years duration. She had a history of delayed menarche at the age of 17 years and irregular menses since then. Secondary sexual characteristic were poorly developed with eunuchoid body structure but normal external genitalia. Laparoscopy showed normal uterus and  Fallopian tube More Detailss with streak gonads. An endocrine evaluation was done and showed high levels of follicle-stimulating hormone of 80 mIU/mL (Normal = 5-30 mIU/mL) and luteinizing hormone = 54 mIU/mL (Normal = 5-20 mIU/mL). Chromosome analysis showed a 46 XY karyotype. Fluorescent in situ hybridization studies showed an XY karyotype, and polymerase chain reaction for sex determining region of Y chromosome was positive. Bilateral gonadectomy was done and sent for a histopathological examination.

On gross examination, the right gonad was 1.6 x 0.9 x 0.9 cm and the left gonad was 2.9 x 1.8 x 1.5 cm. Both gonads had a smooth external surface with fine whitish granules on cut surface. Microscopic examination of both gonads showed tumors composed of nest of cells with two cell types located within a fibrous stroma [Figure 1]. The two cell types were large germ cells (similar to dysgerminoma/seminoma) and small cells, which resemble immature Sertoli or granulosa cells.

The germ cells were large round with pale granular cytoplasm, large round vesicular nuclei and were intimately admixed with immature Sertoli or granulosa cells, which were smaller with oval dark slightly elongated nuclei. Hyaline Call-Exner like bodies were seen [Figure 2]. Calcification was seen in the form of small calcific spherules to large calcified masses. Thus, a diagnosis of gonadoblastoma was made. The left gonad also showed a dysgerminoma extensively overgrowing the gonadoblastoma [Figure 3]. No normal gonadal tissue was seen. On immunohistochemistry, the overgrowing tumor cells were positive for placental alkaline phosphatase and C-kit but negative for CD30, inhibin, cytokeratin and leukocyte common antigen. A final diagnosis of bilateral gonadoblastoma with overgrown dysgerminoma of the left gonad in a case of XY pure gonadal dysgenesis (Swyer Syndrome) was made. No metastases were detected.

46 XY pure gonadal dysgenesis is a rare condition of intersexuality described by Swyer in 1955. It arises from an abnormality in testicular differentiation and is thought to be due to a deletion or mutation involving the sex determining region of the Y chromosome. [1] The incidence of Swyer syndrome is 1 : 100 000. It is usually characterized by a 46 XY karyotype, a female phenotype with normal female external genitalia, a hypoplastic to normal uterus, streak gonads and primary amenorrhea. [2],[3] Gonadoblastomas are benign tumors composed of germ cells and sex cords derivatives resembling immature granulosa and  Sertoli cells More Details. They occur almost entirely in patients with gonadal dysgenesis and in those carrying the Y chromosome. [4],[5] Gonadoblastomas often develop into malignant germ cell neoplasm as was seen in our case.

A prophylactic bilateral gonadectomy is strongly recommended as dysgenetic gonads have a very high risk of developing into malignant germ cell neoplasm.


   Acknowledgment Top


Dr. M.S. Nanavati, Nowrosjee Wadia Maternity Hospital, Mumbai, for refering the case for our opinion and diagnosis.

 
   References Top

1.Tayfur M, Kocabas R, Kaygisiz AZ, Tiryaki S, Polat M, Cefle K. Dysgerminoma arising in Swyer Syndrome. Internet J Pathol 2008;7:2.   Back to cited text no. 1      
2.Coutin AS, Hamy A, Fondevilla M, Savigny B, Paineau J, Visset J. Pure 46 XY gonadal dysgenesis. J Gynecol Obstet Biol Reprod (Paris) 1996;25:792-6.  Back to cited text no. 2  [PUBMED]    
3.Behtash N, Karimi Zarchi M. Dysgerminoma in three patients with Swyer syndrome. World J Surg Oncol 2007;5:71-5.  Back to cited text no. 3  [PUBMED]  [FULLTEXT]  
4.Gibbons B, Tan SY, Yu CC, Cheah E, Tan HL. Risk of gonadoblastomas in female patients with Y chromosome abnormalities and dysgenetic gonads. J Paediatr Child Health 1999;35:210-3.  Back to cited text no. 4  [PUBMED]  [FULLTEXT]  
5.Kim SK, Sohn IS, Kim JW, Song CH, Park CI, Lee MS, et al. Gonadoblastomas and dysgerminoma associated with 46, XY pure gonadal dysgenesis - a case report. J Korean Med Sci 1993;8:380-4.  Back to cited text no. 5  [PUBMED]  [FULLTEXT]  

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Correspondence Address:
Gwendolyn C Fernandes
1/B7, Queens Marigold Co-op Hsg, Queens Park, Off Mira -Bhayender Highway, Mira Road, Thane - 401 105, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0377-4929.64292

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    Figures

  [Figure 1], [Figure 2], [Figure 3]

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