Molecular evaluation of the SRY gene for gonads of patients with mixed gonadal dysgenesis

AIM: 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.