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Clinical and genetic analysis of a Korean patient with late-onset X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: identification of a novel mutation in the NR0B1 gene.
- Source :
-
The Journal of international medical research [J Int Med Res] 2008 Mar-Apr; Vol. 36 (2), pp. 357-61. - Publication Year :
- 2008
-
Abstract
- Adrenal hypoplasia congenita (AHC) is caused by mutations in the NR0B1 gene on chromosome Xp21.3-p21.2. It manifests as X-linked primary adrenal failure in early infancy or childhood and as hypogonadotropic hypogonadism (HHG) at puberty. Although studies of AHC patients and mutations in the NR0B1 gene have been reported throughout the world, there has previously been only one other case report from Korea. We encountered a 23-year old Korean male with delayed-onset AHC/HHG who had been previously diagnosed with adrenal insufficiency of unknown aetiology at age 13 years. Delayed puberty and incomplete HHG were observed. Direct sequencing of the NR0B1 gene revealed the patient to have a novel insertion mutation (c.959_960insT; Leu321ProfsX68). Although AHC is believed to be rare, it should be considered in a differential diagnosis of patients showing late-onset primary adrenal insufficiency.
- Subjects :
- Adrenal Insufficiency congenital
Adrenal Insufficiency diagnosis
Adult
Age of Onset
DAX-1 Orphan Nuclear Receptor
Diagnosis, Differential
Genetic Diseases, X-Linked diagnosis
Humans
Korea
Male
Adrenal Glands abnormalities
Adrenal Insufficiency genetics
DNA-Binding Proteins genetics
Genetic Diseases, X-Linked genetics
Hypogonadism genetics
Mutagenesis, Insertional
Receptors, Retinoic Acid genetics
Repressor Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0300-0605
- Volume :
- 36
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- The Journal of international medical research
- Publication Type :
- Academic Journal
- Accession number :
- 18380948
- Full Text :
- https://doi.org/10.1177/147323000803600220