| Autor: |
Rodríguez Estévez, Amaia, Pérez-Nanclares, Gustavo, Fernández-Toral, Joaquin, Rivas-Crespo, Francisco, López-Siguero, Juan P., Díez, Ignacio, Grau, Gema, Castaño, Luis |
| Zdroj: |
Journal of Pediatric Endocrinology & Metabolism; Sep2015, Vol. 28 Issue 9/10, p1129-1137, 9p |
| Abstrakt: |
Background: X-linked adrenal hypoplasia congenita (AHC) is caused by NR0B1 (DAX1) gene mutations. Affected male children suffer from adrenal insufficiency, leading to a salt-wasting crisis in early infancy and hypogonadotropic hypogonadism in adulthood. Objective: To characterize clinically and at the molecular level a cohort of Spanish patients with AHC. Patients and methods: Nine boys (from five families) with AHC were screened for NR0B1 mutations. Clinical and endocrine evaluations were recorded. Results: NR0B1 gene mutations were found in all analyzed patients, one of them being novel (p.Gln305*). One patient presented with preserved hypothalamic-pituitary-gonadal axis. Salt-wasting episodes, delayed puberty, and hypogonadotropic hypogonadism were common, although no association was observed between AHC phenotype and genetic mutations. None of the patients has had descendants. Conclusions: AHC phenotype cannot be predicted based on genetic results as there is no definite genotype-phenotype relationship, including intrafamilial variability. Nevertheless, genetic testing for NR0B1 mutations is indicated if there is a suspicion of an X-linked adrenal insufficiency in order to proceed with the appropriate therapy and genetic counseling. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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