Functional Analysis of a Novel Androgen Receptor Mutation, Q902K, in an Individual with Partial Androgen Insensitivity
نویسندگان
چکیده
منابع مشابه
A Novel Mutation of Androgen Receptor Gene in Complete Androgen Insensitivity Syndrome
abdominal testes at the time of repair of bilateral inguinal hernia in infancy. At the age of 9 yr, the patient together with her mother visited our service to consult about the pathogenesis. The maternal uncle, reportedly, has “undervirilized external genitalia”. The mother declined to tell further family history. On examination, the patient’s height was 133.2 cm (≅25th percentile) and weight ...
متن کاملA novel mutation of the androgen receptor gene in familial complete androgen insensitivity syndrome.
OBJECTIVE Androgen insensitivity syndrome (AIS) is characterized by androgen receptor (AR) dysfunction. Its main characteristic is a female phenotype in an individual with a 46, XY karyotype. The molecular basis of this disorder was investigated in two individuals with familial AIS. PATIENTS AND METHODS The diagnoses of the two individuals were confirmed using ultrasonography, hormonal analys...
متن کاملComplete androgen insensitivity syndrome caused by a novel mutation in the ligand-binding domain of the androgen receptor: functional characterization.
Mutations in the X-linked androgen receptor (AR) gene cause the androgen insensitivity syndrome by impairing androgen-dependent male sexual differentiation to varying degrees. Complete androgen insensitivity (CAIS) yields an external female phenotype, whereas affected cases of partial androgen insensitivity have various ambiguities of the genitalia. Here we describe a 46,XY phenotypically femal...
متن کاملThe Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene
BACKGROUND In boys with suspected partial androgen insensitivity syndrome (PAIS), systematic evidence that supports the long-term prognostic value of identifying a mutation in the androgen receptor gene (AR) is lacking. OBJECTIVE To assess the clinical characteristics and long-term outcomes in young men with suspected PAIS in relation to the results of AR analysis. METHODS Through the Inter...
متن کاملMolecular analysis of the androgen-receptor gene in a family with receptor-positive partial androgen insensitivity: an unusual type of intronic mutation.
In the coding part and the intron-exon boundaries of the androgen-receptor gene of a patient with partial androgen insensitivity, no mutation was found. The androgen receptor of this patient displayed normal ligand-binding parameters and migrated as a 110-112-kD doublet on SDS-PAGE in the absence of hormone. However, after culturing of the patient's genital skin fibroblasts in the presence of h...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2005
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2004-0057