46,XY Gonadal Dysgenesis With or Without Adrenal Insufficiency (NR5A1-related)

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.

Tests Available

Forms and Documents

Test Details

NR5A1
  • To differentiate NR5A1-associated DSD from other disorders causing XY gonadal dysgenesis
  • To determine the etiology of infertility in males with severe spermatogenic failure
  • Carrier testing in at-risk family members
  • Prenatal diagnosis for known mutations
  • Capillary Sequencing

Ordering

341
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Lin et al., (2006) J Clin Endocrinol Metab 91(8):3048-3054
  2. Bashamboo et al., (2010) Am J Hum Genet 87:505- 512
  3. Kohler et al., (2009) Eur J Endocrinol 161:237-242
  4. Kohler et al., (2008) Hum Mutat 29(1):59-64
  5. Achermann et al., (2002) J Clin Endocrinol Metab 87:1829-1833
  6. Lin et al., (2007) J Clin Endocrinol Metab 92:991-999
  7. Biason-Lauber et al., (2000) Am J Hum Genet 67:1563- 1568
  8. van Silfhout et al., (2009) Eur J Hum Genet 52:157-160
  9. Philibert et al., (2010) Am J Hum Genet 87:505-512
  10. Lin et al., (2008) Sex Dev 2:200-209
  11. Achermann et al., (2001) Mol Cell Endocrinol 185:17-25
  12. Lourenco et al., (2009) N Engl J Med 360:1-11

Forms and Documents

Test Details

NR5A1
  • 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
  • Capillary Sequencing

Ordering

746
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81479x1, 81265x1
No
No
* For price inquiries please email zebras@genedx.com