NR5A1

Publications

Achermann J et al. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet. 1999;22(2):125-126. PMID: 10369247.

Baetens D et al. NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. Genet Med. 2017;19(4):367-376. PMID 27490115.

Bashamboo A et al. NR5A1/SF-1 and development and function of the ovary. Ann Endocrinol. 2010;71(3):177-182. PMID: 20394914.

Bashamboo A et al. Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1. Am J Hum Genet. 2010;87(4):505-512. PMID: 20887963.

Ferraz-de-Sousa B et al. Steroidogenic factor-1 (SF-1, NR5A1) and human disease. Mol Cell Endocrinol. 2011;336(1-2):198-205. PMID: 21078366.

Hoivik E et al. Molecular aspects of steroidogenic factor 1 (SF-1). Mol Cell Endocrinol. 2010;315(1-2):27-39. PMID: 19616058.

Igarashi M et al. Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues. Hum Mutat. 2017;38(1):39-42. PMID: 27610946.

Knarston I et al. NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients. Hum Mutat. 2019; 40(2):207-216. PMID: 30350900.

Kohler B et al. The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency. Eur J Endocrinol. 2009;161(2):237-242. PMID: 19439508.

Lourenço D et al. Mutations in NR5A1 Associated with Ovarian Insufficiency. N Engl J Med. 2009;360(12):1200-1210. PMID: 19246354.

McElreavey K et al. Steroidogenic Factor-1 (SF-1, NR5A1) and 46,XX Ovotesticular Disorders of Sex Development: One Factor, Many Phenotypes. Horm Res Paediatr. 2017;87(3): 89-90. PMID: 27978531.

Schimmer B et al. Minireview: Steroidogenic Factor 1: Its Roles in Differentiation, Development, and Disease. Mol Endocrinol. 2010; 24(7):1322–1337. PMID: 20203099.

Zangen D et al. Testicular differentiation factor SF-1 is required for human spleen development. J Clinic Invest. 2014;124(5):2071-2075. PMID: 24905461.

Where can parents/caregivers get more information on NR5A1-related phenotypes?