Article
Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity.
The Journal of clinical endocrinology and metabolism - 1 Nov 2016
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
Abstract excerpt
CONTEXT: Only approximately 85% of patients with a clinical diagnosis complete androgen insensitivity syndrome and less than 30% with partial androgen insensitivity syndrome can be explained by inactivating mutations in the androgen receptor (AR) gene. OBJECTIVE: The objective of the study was to clarify this discrepancy by in vitro determination of AR transcriptional activity in individuals with disorders of sex...
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