Next generation sequencing reveals novel genetic variants (SRY, DMRT1, NR5A1, DHH, DHX37) in adults with 46,XY DSD | Buonocore F, et al | Journal of the Endocrine Society | Dec. 2019

Buonocore F, Clifford-Mobley O, King TF, Striglioni N, Man E, Suntharalingham JP, et al. Next-generation sequencing reveals novel genetic variants (SRY, DMRT1, NR5A1, DHH, DHX37) in adults with 46, XY DSD. Journal of the Endocrine Society. 2019;12:2341-60.

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Context

The genetic basis of human sex development is slowly being elucidated, and >40 different genetic causes of differences (or disorders) of sex development (DSDs) have now been reported. However, reaching a specific diagnosis using traditional approaches can be difficult, especially in adults where limited biochemical data may be available.

Objective

We used a targeted next-generation sequencing approach to analyze known and candidate genes for DSDs in individuals with no specific molecular diagnosis.

DSD,Targeted re-sequencing,endocrine