| Title |
Novel androgen receptor gene variant containing a premature termination codon in a patient with androgen insensitivity syndrome / |
| Authors |
Pranckėnienė, Laura ; Bumbulienė, Žana ; Dasevičius, Darius ; Utkus, Algirdas ; Kučinskas, Vaidutis ; Preikšaitienė, Eglė |
| DOI |
10.1016/j.jpag.2019.08.001 |
| Full Text |
|
| Is Part of |
Journal of pediatric and adolescent gynecology.. New York : Elsevier Science. 2019, vol. 32, no. 6, p. 641-644.. ISSN 1083-3188. eISSN 1873-4332 |
| Keywords [eng] |
androgen insensitivity syndrome ; AR gene ; disorder of sexual development ; 46,XY female |
| Abstract [eng] |
BACKGROUND: Androgen receptor mutations, which cause androgen insensitivity syndrome, impair the actions of 5ɑ-dihydrotestosterone and testosterone, resulting in abnormal sexual development. In most cases, genetic aberrations of the androgen receptor (AR) are caused by substitutions, but also can result from mutations in splicing regions and deletions in the AR gene.CASE: Our present study describes a female with 46,XY karyotype and normal female external genitalia. A novel de novo c.1669_1670insC insertion in the AR gene caused androgen insensitivity syndrome. SUMMARY AND CONCLUSION: This report provides a detailed clinical characterization of the patient and a possible pathogenic mechanism leading to androgen insensitivity syndrome and is particularly useful in genetic counselling. |
| Published |
New York : Elsevier Science |
| Type |
Journal article |
| Language |
English |
| Publication date |
2019 |
| CC license |
|
