Incomplete androgen insensitivity associated with a thermolabile androgen receptor.
One infant and a cousin with incomplete androgen insensitivity syndrome were reported. The familial pedigree showed that the disorder was inherited in three generations in X-linked recessive fashion. An androgen binding study of cultured genital skin fibroblast from patients showed normal maximum binding capacity and a normal apparent dissociation constant. Heat stability assay showed binding decreased to less than 30% at 41 degrees C compared with the amount at 30 degrees C, indicating that the androgen receptor was thermolabile.
Hasegawa
T
T
Division of Endocrinology and Metabolism, Tokyo Metropolitan Kiyose Children's Hospital, Japan.
Imasaki
K
K
Haji
M
M
Hasegawa
Y
Y
Aso
T
T
Koto
S
S
Tsuchiya
Y
Y
Kawamura
T
T
Shinohara
O
O
Nawata
H
H
D013734:Androgen-Insensitivity Syndrome / Q000235:genetics / Q000378:metabolism*; D000728:Androgens / Q000378:metabolism*; D002478:Cells, Cultured; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005808:Genes, Recessive; D006358:Hot Temperature; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D011944:Receptors, Androgen / Q000378:metabolism*; D012867:Skin / Q000166:cytology / Q000378:metabolism*; D013577:Syndrome
D000728:Androgens; D011944:Receptors, Androgen