Molecular evaluation of the SRY gene for gonads of patients with mixed gonadal dysgenesis.
OBJECTIVE
To determine whether the SRY gene is present in the gonads of patients with mixed gonadal dysgenesis (MGD).


METHODS
Molecular analysis was performed in three patients with MGD. Polymerase chain reactions were used to test for the presence of the SRY gene in the peripheral lymphocytes, testes and streak gonads.


RESULTS
Chromosome analysis revealed 45,XO/46,XY in two patients, and 46,XY in the third patient. In the peripheral lymphocytes and testicular tissue, the SRY sequences were positive in all cases. However, the SRY sequence was detected in the streak gonad in only two of the three patients.


CONCLUSIONS
It is interesting that we identified both SRY-positive and SRY-negative streak gonads. Although the SRY gene has a very important role in testicular differentiation, genes other than the SRY gene might also influence the development of the indifferent gonad in MGD.
Mizuno
Kentaro
K
Department of Nephro-urology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan. m.kentaro@nifty.com
Kojima
Yoshiyuki
Y
Tozawa
Keiichi
K
Sasaki
Shoichi
S
Hayashi
Yutaro
Y
Kohri
Kenjiro
K
D016022:Case-Control Studies; D002675:Child, Preschool; D015331:Cohort Studies; D024282:Genes, sry / Q000235:genetics*; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006066:Gonads / Q000378:metabolism; D006801:Humans; D007223:Infant; D008214:Lymphocytes / Q000378:metabolism; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000378:metabolism; D051876:Sex-Determining Region Y Protein / Q000235:genetics* / Q000378:metabolism
D012333:RNA, Messenger; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein