Mixed gonadal dysgenesis with normal karyotype : A rare case report.
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Date
2010-04
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Abstract
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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Keywords
Hypospadias, mixed gonadal dysgenesis, undescended testis, 46XY karyotype
Citation
Anand Ajay, Gupta Narmada P, Singh M K, Mathur Sandeep R, Nayyar Rishi. Mixed gonadal dysgenesis with normal karyotype : A rare case report. Indian Journal of Pathology & Microbiology. 2010 Apr-Jun; 53(2): 313-315.