A Case of 46 , XX Male.
- Author:
Jong In KIM
;
Jeong Ho RHEE
;
Seok Seon KANG
- Publication Type:Case Report
- Keywords:
XX Male
- MeSH:
Adult;
Cell Line;
Constitution and Bylaws;
Genes, X-Linked;
Genitalia;
Gynecomastia;
Humans;
Hypogonadism;
Infertility;
Karyotype;
Male*;
Mosaicism;
Sex-Determining Region Y Protein;
Testis;
X Chromosome;
Y Chromosome;
Zygote
- From:Korean Journal of Obstetrics and Gynecology
1999;42(3):628-631
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
46, XX male is a rare sex cluomasomal constitution characterized by the development of bilateral testis in persons who lack a Y chomosome. The majority of affected persons have normal external genitalia and usually seek medical advice due to infertility, hypogonadism and/or gynecomastia in adulthood. Although Y chromosomsl sequences can be detected in the majority of male subjects with 46, XX karyotype, several studies have shown thst approximately 10 % of patients lack Y chromosomal material including the SRY ( sex-determining region of Y-chromosome) gene. Several hypothesis have been proposed to explain the etiology of this constitution. 1. Translocation of the testis-determining factor (TDF) fiom the Y to the X chromosome or autosome. 2. Acquisition of Y chromosome function by a mutant autosomal or X-linked gene. 3. Undetected mosaicism with Y-bearing cell line 4. Loss of Y chmmosome hom the XXY Klinefelter zygote. We experienced a case of 46, XX male who was 30 years old. We report a case with review of the literature.
