Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development.

ABSTRACT: 46,XY differences and/or disorders of sex development (DSD) are clinically and genetically heterogeneous conditions. Although complete androgen insensitivity syndrome has a strong genotype-phenotype correlation, the other types of 46,XY DSD are less well defined, and thus, the precise diagnosis is challenging. This study focused on comparing the relationship between clinical assessment and genetic findings in a cohort of well-phenotyped patients with 46,XY DSD. The study was an analysis of clinical investigations followed by genetic testing performed on 35 patients presenting to a single center. The clinical assessment included external masculinization score (EMS), endocrine profiling and radiological evaluation. Array-comparative genomic hybridization (array-CGH) and sequencing of DSD-rel

SUBMITTER: Kolesinska Z 

PROVIDER: S-EPMC6311460 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature