Abstract
We report a patient who had the complete androgen insensitivity syndrome (CAIS) associated with a novel point mutation in the ligand-binding domain of the androgen receptor (AR) gene.
The patient was 12 years old with complete female external genitalia, inguinal testes, and a 46, XY karyotype. In endocrine tests, basal serum levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH) were elevated and the FSH and LH responses to luteinizing hormonereleasing hormone (LH-RH) administration were exaggerated. The basal testosterone level and response to human chorionic gonadotropin (HCG) were compatible with those of a normal boy.
The AR gene was examined and a single nucleotide exchange from G to T at position 7, 362 was detected, which resulted in the substitution of phenylalanine for valine at position 734. This amino acid is located on exon E within the ligand-binding domain of the AR. Screening for the G to T mutation at nucleotide position 7, 362 by allele-specific amplification of genomic deoxyribonucleic acid (DNA) did not reveal the mutant DNA in normal subjects. The valine residue at position 734 is highly conserved in the ligand-binding domains of the steroid receptor superfamily. Thus, this novel mutation of exon E (V734P) may be associated with the phenotype of CAIS.
