XY sex reversal and gonadal dysgenesis due to 9p24 monosomy.
We describe a case of XY sex reversal, gonadal dysgenesis, and gonadoblastoma in a patient with a deletion of 9p24 due to a familial translocation. 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 shows that 6 additional patients with 46,XY sex reversal associated with monosomy of the distal short arm of chromosome 9 have been observed. The observation that all 7 patients with sex reversal share a deletion of the distal short arm of chromosome 9 is consistent with the hypothesis that the region 9p24 contains a gene or genes necessary for male sex determination. This present case narrows the chromosome interval containing a critical sex determination gene to the relatively small region 9p24. A molecular analysis of this region will provide a means to identify a gene involved in male sex determination.
McDonald
M T
MT
Department of Pediatrics, University of Michigan, Ann Arbor 48109-0688, USA. mtmcdon@umich.edu
Flejter
W
W
Sheldon
S
S
Putzi
M J
MJ
Gorski
J L
JL
D002899:Chromosomes, Human, Pair 9; D012734:Disorders of Sex Development; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics* / Q000473:pathology; D018238:Gonadoblastoma / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D009006:Monosomy / Q000235:genetics* / Q000473:pathology; D012732:Sex Determination Analysis