A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia.
Mutations of the androgen receptor gene in genetic males cause a variety of androgen insensitivity syndromes varying from female phenotype through intersexuality to male phenotype with infertility. The identification of a missense mutation in the steroid-binding domain in an infertile male with mild features of androgen insensitivity is reported here.
Knoke
I
I
Institut für Humangenetik, Universitätsklinikum Magdeburg, Germany.
Jakubiczka
S
S
Lehnert
H
H
Wieacker
P
P
D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000150:complications / Q000235:genetics* / Q000378:metabolism*; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009845:Oligospermia / Q000150:complications / Q000235:genetics* / Q000378:metabolism*; D010641:Phenotype; D017354:Point Mutation; D011944:Receptors, Androgen / Q000235:genetics*; D018911:Trinucleotide Repeats
D011944:Receptors, Androgen; D004247:DNA