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Abstrakty
The SRY gene (sex-determining region on the Y chromosome; MIM *480000) is responsible for initiating male gonadal development. However, only 15-20% of the cases of XY gonadal dysgenesis are due to mutations in its sequence. Recently, heterozygous mutations in the NR5A1 gene (nuclear receptor subfamily 5, group A, member 1; MIM +184757) have been described in association with ovarian failure and disorders of testis development with or without adrenal failure. Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal STY and no adrenal failure.
Słowa kluczowe
Wydawca
Czasopismo
Rocznik
Tom
Numer
Strony
223-224
Opis fizyczny
p.223-224,ref.
Twórcy
autor
- Laboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering, Campinas State University, Caixa Postal 6010, 13083-875 Campinas, SP, Brasil
autor
- Laboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering, Campinas State University, Caixa Postal 6010, 13083-875 Campinas, SP, Brasil
autor
- Department of Medical Genetics. Faculty of Medical Sciences. Campinas State University, Campinas. SP, Brazil
autor
- Department of Pediatrics, Faculty of Medical Sciences, Campinas State University, Campinas, SP, Brazil
autor
- Laboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering, Campinas State University, Caixa Postal 6010, 13083-875 Campinas, SP, Brasil
Bibliografia
- Achermann JC, Ozisik G, Ito M, Orun UA, Harmanci K, Gurakan B, Jameson JL, 2002. Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. J Clin Endocrinol Metab 87: 1829-1833.
- 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.
- 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.
- Lin L, Achermann JC, 2008. Steroidogenic factor-1 (SF-1, Ad4BP, NR5 A1) and disorders of testis development. Sex Dev 2:200-209. DOI: 10.1159/000152036.
- Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, et al. 2009. Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med 360:1200-1210. DOI: 10.1056/NEJMoa0806228.
- Tajima T, Fujiwara F, Fujieda K, 2009. A novel heterozygous mutation of steroidogenic factor-1 (SF-l/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.
Typ dokumentu
Bibliografia
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