Abstract
Ambiguous genitalia is a common feature in most disorders of sexual development. These
disorders can be evaluated within three groups: sex chromosome disorders, 46,XY disorders,
and 46,XX disorders. Except for Turner's syndrome, these anomalies are not related
to neurological developmental anomalies. A 6-month-old patient presenting with ambiguous
genitalia had developmental and motor retardation with nystagmus. In karyotype analysis,
45,X/46,XY sequences were found, compatible with mixed gonadal dysgenesis (GD). Laboratory
findings were normal except for low serum total testosterone level. The uterus and
left adnexal structures were seen in imaging. There were no gonads in the labial/scrotal
regions. Septooptic dysplasia (SOD) and Joubert's syndrome (JS) were detected in cranial
magnetic resonance imaging. This presentation reports rare association of SOD and
JS in a child with mixed GD.
Keywords
ambiguous genitalia - gonadal dysgenesis - 45 - X/46 - XY - Joubert's syndrome - septooptic
dysplasia
