Ei-ichi Kinoshita a , Ei-ichi Kinoshita a , Masaaki Yoshimoto a , Masaaki Yoshimoto a , Katsuaki Motomura a , Katsuaki Motomura a , Tomoko Kawaguchi a , Tomoko Kawaguchi a , Ryogo Mori a , Ryogo Mori a , Tsuneyoshi Baba a , Tsuneyoshi Baba a , Kahoru Nishijo b , Kahoru Nishijo b , Tomonobu Hasegawa c , Tomonobu Hasegawa c , Toru Momoi d , Toru Momoi d , Tom Yorihuji e , Tom Yorihuji e
10 December 2008
Abnormality of the DAX-1 gene accounts for many instances of congenital adrenal hypoplasia. In the present study, we performed molecular genetic analysis of DAX-1 in 4 unrelated Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. A double-point mutation for V126M and W171X was identified in 1 family and a complex de novo insertion-deletion mutation was identified in a second. The DAX-1 gene was entirely deleted in a 3rd patient as well as in a 4th with the additional feature of glycerol kinase deficiency.