Use of a probe for the putative sex determining gene, Zinc finger Y, in the study of patients with ambiguous genitalia and XY gonadal dysgenesis

Using reverse genetics, a candidate for the sex determining gene from the Y chromosome has recently been cloned. We have used a DNA probe from this gene to assess the presence of this crucial region of the Y chromosome in patients with sexual ambiguity or gonadal dysgenesis. The DNA from 3 cases of gonadal dysgenesis, one complicated by somatic anomalies and mental retardation, reacted normally with this putative sex determining gene. A patient having a small phallus and pseudovaginal, perineoscrotal hypospadias (PPSH) also had normal Y chromosomal DNA. We hypothesize that the defect in sex determination in all 4 cases is most probably subsequent to the primary sex determining switch.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/38251/1/1320360218_ftp.pd