Phenotype at birth and sex of rearing of index case from families reported to have an androgen receptor gene mutation which changes amino acid 840 of the androgen receptor
Change at amino acid 840 | Phenotype | Sex of rearing | Reference |
---|---|---|---|
Arginine to cysteine | Cryptochidism/hypospadias | M | 14 |
Reifenstein1-150 | M | 15 | |
Reifenstein1-150 | M | 15 | |
Ambiguous genitalia | F | 16, this paper | |
Arginine to histidine | Ambiguous genitalia | F | 17 |
Ambiguous genitalia | F | 14 | |
Ambiguous genitalia | F | 14 | |
Ambiguous genitalia | F | 15 | |
Ambiguous genitalia | M | 15, 18 | |
Ambiguous genitalia | F | 19 | |
Ambiguous genitalia | F | 20 | |
Ambiguous genitalia | M | 21 |
↵1-150 Perineoscrotal hypospadias and gynaecomastia.