Mixed gonadal dysgenesis with normal karyotype: a rare case report.
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.
Anand
Ajay
A
Departments of Urology and Pathology, All India Institute of Medical Sciences, New Delhi - 110 029, India.
Gupta
Narmada P
NP
Singh
M K
MK
Mathur
Sandeep R
SR
Nayyar
Rishi
R
D000293:Adolescent; D006060:Gonadal Dysgenesis, Mixed / Q000175:diagnosis* / Q000473:pathology*; D006651:Histocytochemistry; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000166:cytology / Q000473:pathology; D008297:Male; D013737:Testis / Q000166:cytology