A Case of 46 , XX Male / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology
;
: 628-631, 1999.
Article
in Korean
| WPRIM
| ID: wpr-16440
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Testis
/
X Chromosome
/
Y Chromosome
/
Zygote
/
Cell Line
/
Constitution and Bylaws
/
Sex-Determining Region Y Protein
/
Genes, X-Linked
/
Karyotype
/
Genitalia
Limits:
Adult
/
Humans
/
Male
Language:
Korean
Journal:
Korean Journal of Obstetrics and Gynecology
Year:
1999
Type:
Article
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