Indian Journal of Pathology and Microbiology (Apr 2010)

Mixed gonadal dysgenesis with normal karyotype : A rare case report

  • Anand Ajay,
  • Gupta Narmada,
  • Singh M,
  • Mathur Sandeep,
  • Nayyar Rishi

Journal volume & issue
Vol. 53, no. 2
pp. 313 – 315

Abstract

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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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