Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene

@article{Sinnecker1996FunctionalAA,
  title={Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene},
  author={Gernot H. G. Sinnecker and Olaf Hiort and Esther M. Nitsche and P. M. Holterhus and Klaus Kruse and German Neuromonitoring Study Group},
  journal={European Journal of Pediatrics},
  year={1996},
  volume={156},
  pages={7-14}
}
Abstract In the genetic male, mutations of the androgen receptor (AR) gene cause phenotypes ranging from female to subfertile male. Binding assays on genital skin fibroblasts and DNA analysis alone provide incomplete information about receptor function. We used the sex hormone-binding globulin (SHBG) response to stanozolol as a measure of AR function and correlated the results with phenotypes which were classified according to the degree of defective masculinization. Of the 34 patients… Expand
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This study investigates AR gene mutations in 46,XY DSD patients with normal testosterone secretion, either normal or high testosterone/dihydrotestosterone (T/DHT) ratio and normal SRD5A2 gene analysis, collectively, suggestive of androgen insensitivity syndrome (AIS). Expand
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Patients with clinically evident complete androgen insensitivity syndrome are likely to harbor an AR gene mutation, demanding that the two polymorphic regions must always be included in molecular analyses of the AR gene. Expand
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Somatic mosaicism of the AR gene can represent a substantial factor for the individual phenotype by shifting it to a higher degree of virilization than expected from the genotype of the mutant allele alone. Expand
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The view that nonsense mutations in the AR results almost invariably in a CAIS phenotype and underly the importance of the steroid‐binding domain (SBD) for the AR functional activity is reaffirmed. Expand
Expression of two functionally different androgen receptors in a patient with androgen insensitivity
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The present case clearly demonstrates the molecular mechanism by which somatic mosaicism of the androgen receptor gene can modulate in vivo androgen action and underlines the importance of particular notice on somatic mosaicicism in all androgen insensitivity syndrome patients carrying de novo mutations of the AR gene. Expand
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TLDR
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TLDR
A new variant of CAIS is described which is characterized by an increased concentration of androgen receptors that appear to be quantitatively and qualitatively normal. Expand
PARTIAL ANDROGEN INSENSITIVITY DUE TO VAL → LEU SUBSTITUTION IN CODON 866 OF THE ANDROGEN RECEPTOR CAN BE TREATED WITH HIGH DOSES OF TESTOSTERONE
Androgen insensitivity syndromes have different phenotypes, depending on severity of the receptor defect, which in turn depends on the type of androgen receptor gene mutation. A molecular geneticExpand
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