Abstract
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.
Original language | English |
---|---|
Pages (from-to) | 29-34 |
Number of pages | 6 |
Journal | Hormone Research in Paediatrics |
Volume | 48 |
Issue number | 1 |
DOIs | |
Publication status | Published - 1997 Jan 1 |
Externally published | Yes |
Keywords
- Adrenal hypoplasia congenital
- DAX 1
- Hypogonadotropic hypogonadism
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Endocrinology, Diabetes and Metabolism
- Endocrinology