Mixed Gonadal Dysgenesis Mimicking True Hermaphroditism.
- Author:
Jae Duck CHOI
1
;
Jong Ho JEON
;
Jae Shin PARK
Author Information
1. The Department of Urology, Collage of Medicine, Daegu Catholic University, Daegu, Korea. jspark@cu.ac.kr
- Publication Type:Case Report
- Keywords:
Mixed gonadal dysgenesis;
True hermaphroditism;
Gonad
- MeSH:
Diagnosis, Differential;
Fallopian Tubes;
Female;
Gonadal Dysgenesis, Mixed*;
Gonads;
Humans;
Hypospadias;
Male;
Ovary;
Ovotesticular Disorders of Sex Development*;
Scrotum;
Skin;
Testis;
Ultrasonography;
Uterus
- From:Journal of the Korean Association of Pediatric Surgeons
2007;13(2):222-227
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
A differential diagnosis between the true hermaphroditism (TH) and mixed gonadal dysgenesis (MGD) has important clinical implications for gender assignment and the decision for early gonadectomy; however, variable clinical and histological features frequently lead to the confusion of TH with MGD. A 17- month-old boy was presented with proximal hypospadias with chordee and right non-palpable testis in his scrotum. He also had right auricular anomaly including a separated tragus with skin tag. Left testis was well palpable in his left scrotum. Diagnostic right inguinal exploration showed Mullerian structures such as a gonad like an ovary and a fallopian tube with a uterus, which were removed. Repair of hypospadias and right auricular anomaly was also done. Following ultrasonography (USG) showed a normal looking testis in left scrotum. His chromosome was 45, XO/46, XY. We report a difficult case of mixed gonadal dysgenesis mimicking true hermaphroditism which combines ipsilateral congenital auricular anomaly.
