Abstract:
:X-linked congenital adrenal hypoplasia (AHC) is a developmental disorder of the human adrenal gland that results in profound hormonal deficiencies, which are lethal if untreated. Hypogonadotropic hypogonadism (HHG) is frequently associated with this disorder. The gene (DAX-1) responsible for the disease has recently been isolated. It encodes a protein with large similarity to members of the nuclear hormone receptor superfamily. Several different mutations in this gene have been found in patients suffering from AHC. We have identified a missense mutation (N440I) in three patients with AHC and HHG, all belonging to a large Greenlandic family. A total of 42 individuals has been tested for this mutation. We have diagnosed 10 women as carriers, and have excluded 22 women with a 25-50% risk from being carriers, emphasizing the rapid impact of molecular genetic techniques.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Schwartz M,Blichfeldt S,Müller Jdoi
10.1007/s004390050316subject
Has Abstractpub_date
1997-01-01 00:00:00pages
83-7issue
1eissn
0340-6717issn
1432-1203journal_volume
99pub_type
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