Article
Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome.
The Journal of clinical endocrinology and metabolism - 1 Nov 1997
Holterhus P M, Brüggenwirth H T, Hiort O, Kleinkauf-Houcken A, Kruse K, Sinnecker G H, Brinkmann A O
Abstract excerpt
Premature stop codons of the human androgen receptor (AR) gene are usually associated with a complete androgen insensitivity syndrome. We, however, identified an adult patient with a 46,XY karyotype carrying a premature stop codon in exon 1 of the AR gene presenting with signs of partial virilization: pubic hair Tanner stage 4 and clitoral enlargement. No other family members were affected. A point mutation at...
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