Article
A novel mutation in the D-box of the androgen receptor gene (S597R) in two unrelated individuals Is associated with both normal phenotype and severe PAIS.
Hormone research - 1 Jan 2004
Giwercman Yvonne L, Ivarsson Sten A, Richthoff Jonas, Lundin Kristina B, Giwercman Aleksander
Abstract excerpt
BACKGROUND: An absent or dysfunctional androgen receptor (AR) in 46,XY individuals is the most common cause of various degrees of undermasculinization. Therefore, we routinely perform sequencing of the AR gene in all cases with suspected androgen insensitivity. METHODS: In a newborn 46,XY male diagnosed with partial androgen insensitivity syndrome and a phenotypically normal man, who in childhood had bilateral...
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