A Case of Hypospadias with a Chromosomal Abnormality.
- Author:
Saw Young PAIK
1
;
Jin Il KIM
;
Soo Eung CHAI
Author Information
1. Kyung Hee University, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
hypospadias;
chromosomal abnormality
- MeSH:
Chromosome Aberrations*;
Complement System Proteins;
Disorders of Sex Development;
Embryonic Development;
Female;
Genitalia;
Gonadal Dysgenesis, Mixed;
Gonads;
Humans;
Hypospadias*;
Male;
Mosaicism;
Pregnancy;
Testis
- From:Korean Journal of Urology
1986;27(6):955-957
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
XO/XY mosaicism is frequently observed in the most patients with mixed gonadal dysgenesis. Mixed gonadal dysgenesis is a condition of Intersexuality characterized by asymmetric gonads or ambiguous genitalia or both. The external genitalia are always masculinized to some extent, on occasion represent a hypospadias as a common genetic form of a mixed gonadal dysgenesis. The disorder probably results from a cytogenic error that occurs early in embryogenesis. Phenotypic males with mixed gonadal dysgenesis have a high risk of developing gonadal tumors. We describe a case of hypospadias with a unilateral testis and XO/XY chromosome complement that is considered as a mixed gonadal dysgenesis.