Mixed gonadal dysgenesis with normal karyotype: a rare case report.
Indian J Pathol Microbiol
; 53(2): 313-5, 2010.
Article
en En
| MEDLINE
| ID: mdl-20551542
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Disgenesia Gonadal Mixta
Límite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Indian J Pathol Microbiol
Año:
2010
Tipo del documento:
Article
País de afiliación:
India