DETECTION OF THE SRY AND ZFY SLQUENCES IN PATIENTS WITH ABNORMAL GORADAL DIFFERENTIATION

Abstract

Thirteen patients with abnormal gondal differentiation confirmed by pathology were studied. Seven with 46,XY karyotype (six with dysgenetic gonads and one with gonadal agenesis) and six with 46,XY karyotype: three 46,XY true hermaphrodites, two genitalia and gynecomastia) and one 46,XX patient with primary gonadal failure, born from a consanguineous marriage and sister of the 46,XY patient with gonadal agenesis. The SRY sequence was amplified by PCR with the primers EA and EB located within the SRY conserved sequence, amplifying a 317-bp fragment. The Y-specific DNA sequence ZFY was detected by Southern hybridizations using the pDP1007 probe, which corresponds to a Y-chromosome segment mapping close to the testis determining factor corresponds to a Y-chromosome segment mapping close to the testis determining factor region. The ZFY sequence was analysed in 8 cases (three 46,XX and five 46,XY patients) and found to be present in all 46,XY patients being absent in the 46,XX patients. The SRY sequence was analysed by PCR in 8 cases (four 46,XX patients and four 46,XY patients) being present in one 46,XX patient (a true hermaphrodite) and in all 46,XY (gonadal dysgenesis patients) and absent in three 46,XX patients. It was concluded that: a)-testicular differentiation can occur in the absence of the Y-chromosome sequences SRY and ZFY; b)-gonadal dysgenesis in SRY and ZFY-positive patients could be caused by mutations, Out of the SRY and ZFY loci; c)-46,XX and 46,XY gonadal agenesis present in two sisters born from consanguineous marriage suggest a role for autosomal loci in gonadal differentation.