CASE REPORT |
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Year : 2010 | Volume
: 53
| Issue : 2 | Page : 313-315 |
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Mixed gonadal dysgenesis with normal karyotype : A rare case report
Ajay Anand, Narmada P Gupta, MK Singh, Sandeep R Mathur, Rishi Nayyar
Departments of Urology and Pathology, All India Institute of Medical Sciences, New Delhi - 110 029, India
Correspondence Address:
Narmada P Gupta Departments of Urology and Pathology, All India Institute of Medical Sciences, New Delhi - 110 029 India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0377-4929.64297
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Mixed gonadal dysgenesis (MGD) presents as a unilateral testis, usually intraabdominal, a streak gonad on contralateral side, and persistent mullerian structures. 45X/45XY karyotype is most frequent in such cases with predominance of 45X cells in both peripheral lymphocytes and gonads. We present a rare case of a left undescended testis, normally descended right testis, with penoscrotal hypospadias, who had a normal karyotype and whose histopathological findings were endometrial tissue and fallopian tube in left testicular biopsy. Gonadal dysgenesis should always be kept a possibility in patient with undescended testis and proximal hypospadias. If karyotype reveals a 46XY gonadal dysgenesis, these patients need all the more careful follow-up to screen for gonadoblastoma in remaining normal testis. Subjecting the patients to prophylactic orchidectomy with hormone replacement can be an additional option in such patients. |
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