Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: A case study

Journal of Applied Genetics

Volumn 51, Issue 2, 2010, Pages 223-224

  Soardi, F C ^a   Coeli, F Borchers ^a   Maciel Guerra, A T ^a   Guerra Junior G ^a   Palandi de Mello, M ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

Gene mutations; NR5A1 gene; XY gonadal dysgenesis

Indexed keywords

EID: 77952789555     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03195733     Document Type: Article

References (6)

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2. Hoivik EA, Lewis AE, Aumo L, Bakke M, 2010. Molecular aspects of steroidogenic factor 1 (SF-1). Mol Cell Endocrinol 315: 27-39. DOI: 10.1016/j.mce.2009.07.003.
3. Köhler B, Lin L, Mazen I, Cetindag C, Biebermann H, Akkurt I, et al. 2009. 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 161: 237-242. DOI: 10.1530/EJE-09-0067.
4. Lin L, Achermann JC, 2008. Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development. Sex Dev 2:200-209. DOI: 10.1159/000152036.
5. Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, et al. 2009. Mutations inNR5A1 associated with ovarian insufficiency. N Engl J Med 360:1200-1210. DOI: 10.1056/NEJMoa0806228.
6. Tajima T, Fujiwara F, Fujieda K, 2009. A novel heterozygous mutation of steroidogenic factor-1 (SF-1/Ad4BP) gene (NR5A1) in a 46,XY disorders of sex development (DSD) patient without adrenal failure. Endocr J 56: 619-624. DOI:10.1507/endocrj.K08E-380.