Transcription of androgen receptor and 5 alpha-reductase II in genital fibroblasts from patients with androgen insensitivity syndrome

Impaired virilisation during embryonic development and pubertal arrest in p atients with androgen insensitivity syndrome (AIS) is usually caused by mut ations in the androgen receptor (AR)- or the 5 alpha -reductase II (5RII) g ene. However identical mutations may lead to strikingly different phenotype s. To investigate whether this may be caused by individually altered transc ription rates in fibroblasts fron the genital region (GF) from affected pat ients, we applied competitive reverse transcribed PCRs (competitive RT-PCR) targeting AR- and 5RII-transcripts. We could demonstrate that AR- and 5RII -mRNA concentrations in cells from patients with partial and complete AIS a dn missense mutations in the AR- or 5RII-gene are normal or only moderately lowered compared to equally aged normal controls. However, in a patient be aring a premature stop-eodon in the AR-gene a considerably lowered AR-trans cript level was detected. We conclude, that in patients with incomplete vir ilisation disorders due to missense mutations, transcription regulation of AR and 5RII generally follows normal patterns. Accordingly, the premature s top-condon. Therefore, altered AR- and 5RII-transcription rates in fibrobla sts from the GF do not seem to be the cause for the variable genotype-pheno type correlation in androgen insensitivity syndrome. (C) 2001 Elsevier Scie nce Ltd. All rights reserved.