| Autor: |
Hornig, N.C., Ukat, M., Schweikert, H.U., Hiort, O., Werner, R., Drop, S.L.S., Cools, M., Hughes, I.A., Audi, L., Ahmed, S.F., Demiri, J., Rodens, P., Worch, L., Wehner, G., Kulle, A.E., Dunstheimer, D., Müller-Roßberg, E., Reinehr, T., Hadidi, A.T., Eckstein, A.K., Van Der Horst, C., Seif, C., Siebert, R., Ammerpohl, O., Holterhus, P.-M. |
| Jazyk: |
angličtina |
| Rok vydání: |
2016 |
| ISSN: |
0021-972X |
| Popis: |
Context:\ud Only about 85% of patients with clinical diagnosis complete androgen insensitivity syndrome (CAIS) and less than 30% with partial androgen insensitivity syndrome (PAIS) can be explained by inactivating mutations in the androgen receptor (AR) gene.\ud Objective:\ud To clarify this discrepancy by in-vitro determination of AR transcriptional activity in individuals with disorders of sex development (DSD) and male controls.\ud Design:\ud Quantification of dihydrotestosterone (DHT)-dependent transcriptional induction of the AR target gene apolipoprotein D (APOD) in cultured genital fibroblasts (GF) (APOD-assay) and next generation sequencing (NGS) of the complete coding - and non-coding AR-locus.\ud Setting:\ud University Hospital Endocrine research laboratory\ud Patients:\ud GF from 169 individuals were studied encompassing control males (N=68), molecular defined DSD other than AIS (N=18), AR-mutation positive AIS (N=37) and previously undiagnosed DSD including patients with clinical suspicion of AIS (N=46).\ud Intervention(s):\ud None.\ud Main Outcome Measure(s):\ud DHT-dependent APOD-expression in cultured GF and AR-mutation status in 169 individuals.\ud Results:\ud The APOD-assay clearly separated control individuals (healthy males and molecular defined DSD patients other than AIS) from genetically proven AIS (cutoff |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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