title: Predictive value of anatomical findings and karyotype analysis in the diagnosis of patients with disorders of sexual development.
abstract: We assessed the predictive value of anatomical findings and karyotype for establishing a diagnostic orientation in patients with disorders of sex development (DSD). We performed a retrospective chart analysis of 228 patients, grouped into 4 categories: 46,XX DSD, non-dysgenetic testicular DSD, dysgenetic testicular DSD and ovotesticular DSD. Degree of virilisation, presence of vagina, presence of palpable gonads, size of gonads and a plain karyotype was available for all cases. 46,XX DSD due to congenital adrenal hyperplasia counted for 59.2% of the cases, non-dysgenetic testicular DSD for 13.6%, dysgenetic testicular DSD for 21.5% and ovotesticular DSD for 5.7%. Excluding congenital adrenal hyperplasia (CAH), a karyotype with at least one 46,XX cell line had a high diagnostic efficiency for ovotesticular DSD. In these patients, anatomical findings were not as useful to predict the gonadal phenotype. The existence of a 45,X cell line predicted with very high efficiency dysgenetic testicular DSD. Genital palpation was only partially helpful to predict the existence of testicular tissue. Non-dysgenetic testicular DSD could be ruled out with high efficiency in patients with an abnormal karyotype. Anatomical findings were helpful in 46,XY patients: palpated masses predicted non-dysgenetic testes with high accuracy. In all cases assessment of gonadal volume was less useful.
authors.affiliation: División de Endocrinología, Centro de Investigaciones Endocrinológicas, Hospital de Niños R. Gutiérrez, Buenos Aires, Argentina.
authors.forename: A J
authors.initials: AJ
authors.lastname: Arcari
authors.forename: I
authors.initials: I
authors.lastname: Bergadá
authors.forename: R A
authors.initials: RA
authors.lastname: Rey
authors.forename: S
authors.initials: S
authors.lastname: Gottlieb
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000150:complications; D041322:Chromosomes, Human, Y / Q000235:genetics; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics*; D005260:Female; D023961:Gonadal Dysgenesis, 46,XX / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping / Q000379:methods; D008297:Male; D010053:Ovary / Q000378:metabolism / Q000473:pathology; D013737:Testis / Q000378:metabolism / Q000473:pathology