Korean J Obstet Gynecol.
2004 Aug;47(8):1545-1551.
Clinical Review of the Etiologic Factors in Patients with Aambiguous Genitalia
- Affiliations
-
- 1Department of Obstetrics and Gynecology, College of Medicine, University of Ulsan, Asan Medical Center, Seoul, Korea.
- 2Department of Urology, College of Medicine, University of Ulsan, Asan Medical Center, Seoul, Korea.
- 3Department of Pediatrics, College of Medicine, University of Ulsan, Asan Medical Center, Seoul, Korea.
Abstract
OBJECTIVE
To review and evaluate the etiologic factors in patients with ambiguous genitalia
METHODS
We reviewed the medical records of the patients in whom ambiguous genitalia was identified in Asan Medical Center from Jan, 1989 to Dec, 2002. Patients with isolated cryptorchidism, isolated hypospadias, or congenital fatal anomalies involving multiple organs were excluded in our series.
RESULTS
A total of 58 cases were evaluated. The most common cause was congenital adrenal hyperplasia (CAH) (18 cases, 31.0%), followed by partial androgen insensitivity syndrome (AIS) (16 cases, 27.6%), true hermaphroditism (9 cases, 15.5%), and mixed gonadal dysgenesis (5 cases, 8.6%). Morphologic abnormalities observed in patients with ambiguous genitalia were hypospadias (52.5%), clitoromegaly (47.5%), palpable gonads (45.8%), bifid scrotum (23.7%), penoscrotal transposition (22%), cryptorchidism (18.6%), vaginal wall abnormality (10.2%), and M llerian remnant (3.4%). By karyotyping, 46XX, 46XY, and Y containing mosaicism were found in 24, 22, and 9 patients, respectively. All of the 18 patients with CAH were found to have 21-hydroxylase deficiency and all cases of androgen insensitivity syndrome were partial type.
CONCLUSION
These findings suggest that etiologic background might be different in patients with ambiguous genitalia in Korea.
MeSH Terms
-
Adrenal Hyperplasia, Congenital
Androgen-Insensitivity Syndrome
Chungcheongnam-do
Cryptorchidism
Disorders of Sex Development
Female
Genitalia*
Gonadal Dysgenesis, Mixed
Gonads
Humans
Hypospadias
Karyotyping
Korea
Male
Medical Records
Mosaicism
Ovotesticular Disorders of Sex Development
Scrotum
Steroid 21-Hydroxylase
Steroid 21-Hydroxylase
