A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism
โ Scribed by Antonio Balsamo; Alessandra Antelli; Lilia Baldazzi; Federico Baronio; Dina Lazareva; Alessandra Cassio; Alessandro Cicognani
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 278 KB
- Volume
- 135A
- Category
- Article
- ISSN
- 1552-4825
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## X-linked adrenal hypoplasia congenita (AHC) is characterized by primary adrenal insufficiency and is frequently associated with hypogonadotropic hypogonadism (HHG). Mutations of the DAX1 gene have been reported in patients with AHC and HHG. We found a novel DAX1 mutation in our patient. Sequenc
We identified a DAX1 missense mutation, a substitution of arginine for leucine at codon 466 (Leu466Arg), in an infant with X-linked congenital adrenal hypoplasia (AHC). A heterozygous substitution, Leu466Arg, was also identified in his mother and sister. Since leucine at position 466 is well conserv