Sex chromosomal mosaicism in the gonads of patients with gonadal dysgenesis, but normal female or male karyotypes in lymphocytes.
OBJECTIVE
In most cases, XX or XY gonadal dysgenesis remains genetically unexplained. In this pilot study we searched for sex-chromosomal mosaicism in gonads of patients with XX or XY gonadal dysgenesis of undetermined origin.


METHODS
Gonadal tissues were analyzed by cytogenetic and interphase fluorescence in-situ hybridization (FISH) analyses in four patients with gonadal dysgenesis and normal female (46,XX) or male (46,XY) karyotypes in lymphocytes.


RESULTS
Cytogenetic and FISH analyses of the gonads demonstrated in three patients a sex-chromosomal mosaicism. Cytogenetic analysis of gonadal tissue of the fourth patient confirmed the result of the lymphocytes with 46,XX, but FISH analysis revealed in 17% of nuclei only one X-chromosome.


CONCLUSIONS
Our data indicate that sex-chromosomal mosaicism in gonads may be a frequent cause of gonadal dysgenesis despite of normal karyotypes in lymphocytes. Therefore, cytogenetic and FISH analyses of gonadal tissue can provide important information in unexplained cases of gonadal dysgenesis.
Röpke
Albrecht
A
Institute of Human Genetics, Otto von Guericke University Magdeburg, Germany.
Pelz
Antje-Friederike
AF
Volleth
Marianne
M
Schlösser
Hans-Walter
HW
Morlot
Susanne
S
Wieacker
Peter F
PF
D000293:Adolescent; D000328:Adult; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008214:Lymphocytes; D009030:Mosaicism; D010865:Pilot Projects; D012729:Sex Chromosome Aberrations