Forms and Documents
- Full gene sequencing for fetuses with prenatal ultrasound findings suggestive of 46,XY disorder of sex development
- Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
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 or in patients presenting at puberty with 46,XY primary amenorrhea. 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 in the NR5A1 gene have also been identified in several patients with severe (penoscrotal) hypospadias and undescended testes, and in males with idiopathic infertility.