Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study.
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 SRY and no adrenal failure.
Soardi
F C
FC
Laboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering, Campinas State University, Campinas, SP, Brazil.
Coeli
F Borchers
FB
Maciel-Guerra
A T
AT
Guerra-Júnior
G
G
Mello
M Palandi de
MP
D000293:Adolescent; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D009154:Mutation; D054339:Steroidogenic Factor 1 / Q000235:genetics*
D054339:Steroidogenic Factor 1
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19616058
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11932325
Sex Dev. 2008;2(4-5):200-9
18987494
Endocr J. 2009;56(4):619-24
19318730
N Engl J Med. 2009 Mar 19;360(12):1200-10
19246354
Eur J Endocrinol. 2009 Aug;161(2):237-42
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