Association of Distal Deletion of the Short arm of Chromosome 9 with 46,XY Disorder of Sex Development and Gonadoblastoma

Abstract

Deletion of the short arm of chromosome 9 is associated with two distinct clinical prototypes. Small telomeric distal 9p deletions have been reported in patients 46,XY with gonadal dysgenesis, this region contains genes required in two copies for normal testis development. Recent studies have narrowed the interval 9p24.3-pter containing the putative autosomal testis-determining gene(s) known as domain DMRT. On the other hand, and depending on the extent of deletion of the short arm, the clinical characteristics of monosomy 9p syndrome may emerge. We present an infant female with complete 46,XY gonadal dysgenesis, who was examined for motor developmental retardation. In the karyotype a chromosomal deletion 9p24.1 was identified by cytogenetic and fluorescence in situ hybridization studies. No SRY deletion or mutation was detected. Ultrasonographic studies showed a normal uterus. Basal luteinizing hormone and follicle stimulating hormone values were high. The patient underwent gonadectomy at 3.2 years of age, and histologic analysis disclosed dysgenetic gonads with gonadoblastoma.