title: Mixed gonadal dysgenesis with normal karyotype: a rare case report.
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.
authors.affiliation: Departments of Urology and Pathology, All India Institute of Medical Sciences, New Delhi - 110 029, India.
authors.forename: Ajay
authors.initials: A
authors.lastname: Anand
authors.forename: Narmada P
authors.initials: NP
authors.lastname: Gupta
authors.forename: M K
authors.initials: MK
authors.lastname: Singh
authors.forename: Sandeep R
authors.initials: SR
authors.lastname: Mathur
authors.forename: Rishi
authors.initials: R
authors.lastname: Nayyar
mesh_terms: 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