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46,XY Disorder of Sex Development
NR5A1
Mutations in the NR5A1 gene result in a 46,XY disorder of sex development (DSD) with or without adrenal insufficiency. At the severe end of the spectrum, individuals with NR5A1 mutations have presented with primary adrenal failure and 46,XY complete gonadal dysgenesis characterized by female external genitalia, severe testicular dysgenesis, and the presence of Mullerian structures. At the milder end of the spectrum, NR5A1 mutations have been reported in individuals with normal adrenal function and 46,XY partial gonadal dysgenesis resulting in ambiguous genitalia, bilateral testes, and no evidence of Mullerian structures. Mutations also were recently identified in several 46,XX females with primary ovarian insufficiency (premature ovarian failure).
46,XY disorders of sex development are genetically heterogeneous. Previous studies have identified NR5A1 mutations in 13-19% of patients with 46,XY gonadal dysgenesis and normal adrenal function and ~12% of patients with 46,XY gonadal dysgenesis and adrenal failure.
Analysis is performed by bi-directional sequencing of the six coding exons (exons 2-7) and the exon/intron splice junctions of the NR5A1 gene. Mutations found in the first person of a family to be tested are confirmed by repeat analysis using sequencing, restriction fragment analysis, or another appropriate method.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
NR5A1, 46,XY disorder of sex development, DSD, gonadal dysgenesis, adrenal failure
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