Predictive value of anatomical findings and karyotype analysis in the diagnosis of patients with disorders of sexual development

ARCARI AJ; BERGADÁ I; REY RA; GOTTLIEB S

SEXUAL DEVELOPMENT

KARGER

Lugar: Basel; Año: 2007

1661-5425

We assessed the predictive value of anatomical findings andkaryotype for establishing a diagnostic orientation in patientswith disorders of sex development (DSD). We performeda retrospective chart analysis of 228 patients,grouped into 4 categories: 46,XX DSD, non-dysgenetic testicularDSD, dysgenetic testicular DSD and ovotesticularDSD. Degree of virilisation, presence of vagina, presence ofpalpable gonads, size of gonads and a plain karyotype wasavailable for all cases. 46,XX DSD due to congenital adrenalhyperplasia counted for 59.2% of the cases, non-dysgenetictesticular DSD for 13.6%, dysgenetic testicular DSD for 21.5%and ovotesticular DSD for 5.7%. Excluding congenital adrenalhyperplasia (CAH), a karyotype with at least one 46,XXcell line had a high diagnostic efficiency for ovotesticularDSD. In these patients, anatomical findings were not as usefulto predict the gonadal phenotype. The existence of a 45,Xcell line predicted with very high efficiency dysgenetic testicularDSD. Genital palpation was only partially helpful topredict the existence of testicular tissue. Non-dysgenetictesticular DSD could be ruled out with high efficiency in patientswith an abnormal karyotype. Anatomical findingswere helpful in 46,XY patients: palpated masses predictednon-dysgenetic testes with high accuracy. In all cases assessmentof gonadal volume was less useful.