Genetic characterization of two 46,XX males without gonadal ambiguities.
OBJECTIVE
To evaluate hypotheses which explain phenotypic variability in sex determining region Y positive 46,XX males. We investigate two 46,XX males without gonadal ambiguities.


METHODS
Cytogenetic and molecular analyses were used to identify the presence of Y chromosome material and to map the translocation breakpoint. Finally, the pattern of X chromosome inactivation was studied using the methylation assay at the androgen receptor locus.


RESULTS
The presence of Y chromosome material, including the sex determining region Y gene, was demonstrated in both men. However, the amount of translocated Y chromosome material differed between the patients. Different X chromosome inactivation patterns were found in the patients; random in one patient and non-random in the other.


CONCLUSIONS
We found a lack of association between phenotype and X chromosome inactivation pattern. Our cytogenetic and molecular analyses show support for the position effect hypothesis explaining the phenotypic variability in XX males.
Minor
Agata
A
Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, BC, Canada.
Mohammed
Fawziah
F
Farouk
Alla
A
Hatakeyama
Chiho
C
Johnson
Karynn
K
Chow
Victor
V
Ma
Sai
S
D002874:Chromosome Mapping; D004247:DNA / Q000737:chemistry / Q000235:genetics; D023961:Gonadal Dysgenesis, 46,XX / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D051876:Sex-Determining Region Y Protein / Q000235:genetics; D049951:X Chromosome Inactivation; D055815:Young Adult
D051876:Sex-Determining Region Y Protein; D004247:DNA