XY SEX REVERSAL AND GONADAL-DYSGENESIS DUE TO 9P24 MONOSOMY

We describe a case of XY sex reversal, gonadal dysgenesis, and gonadob lastoma in a patient with a deletion of 9p24 due to a familial translo cation, The rearranged chromosome 9 was inherited from the father; the patient's karyotype was 46,XY,der(9)t(8;9) (p21;p24)pat. A review sho ws that 6 additional patients with 46,XY sex reversal associated with monosomy of the distal short arm of chromosome 9 have been observed. T he observation that all 7 patients with sex reversal share a deletion of the distal short arm of chromosme 9 is consistent with the hypothes is that the region 9p24 contains a gene or genes necessary for male se x determination, This present case narrows the chromosome interval con taining a critical sex determination gene to the relatively small regi on 9p24, A molecular analysis of this region will provide a means to i dentify a gene invoved in male sex determination. (C) 1997 Wiley-Liss, Inc.