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

DEL REY G; VENARA M; PAPENDIECK P; GRUÑEIRO-PAPENDIECK L; TANGARI A; BOYWITT A; CASALI B; LAUDICINA A

Biol syst Open Access

Biol syst Open Access

Año: 2015 vol. 4

2329-6577

AbstractDeletion of the short arm of chromosome 9 is associated with two distinct clinical prototypes. Small telomericdistal 9p deletions have been reported in patients 46,XY with gonadal dysgenesis, this region contains genesrequired in two copies for normal testis development. Recent studies have narrowed the interval 9p24.3-ptercontaining the putative autosomal testis-determining gene(s) known as domain DMRT. On the other hand, anddepending on the extent of deletion of the short arm, the clinical characteristics of monosomy 9p syndrome mayemerge. We present an infant female with complete 46,XY gonadal dysgenesis, who was examined for motordevelopmental retardation. In the karyotype a chromosomal deletion 9p24.1 was identified by cytogenetic andfluorescence in situ hybridization studies. No SRY deletion or mutation was detected. Ultrasonographic studiesshowed a normal uterus. Basal luteinizing hormone and follicle stimulating hormone values were high. The patientunderwent gonadectomy at 3.2 years of age, and histologic analysis disclosed dysgenetic gonads withgonadoblastoma.