A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome

a b s t r a c tBackground: Androgen receptor (AR) mutations, which cause androgen insensitivity syndrome, impair the actions of 5a-dihydrotestosterone and testosterone, resulting in abnormal sexual development. In most cases, genetic aberrations of the AR are caused by substitutions, but also can result from mutations in splicing regions and deletions in the AR gene. Case: Our present report describes a female patient 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 should be particularly useful in genetic counseling.

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New mutation causing androgen insensitivity syndrome – a case report and review of literature

Maciejewska-Jeske

Rojewska-Madziala

Broda

et al. 2018

Gynecological Endocrinology

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A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome

Cited by 4 publications

References 11 publications

Case Report: a Novel Nonsense Mutation in the Androgen Receptor Gene Causing the Complete Androgen Insensitivity Syndrome

Case Report: a Novel Nonsense Mutation in the Androgen Receptor Gene Causing the Complete Androgen Insensitivity Syndrome

Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome

New mutation causing androgen insensitivity syndrome – a case report and review of literature

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