Table 1

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 840PhenotypeSex of rearingReference
Arginine to cysteineCryptochidism/hypospadiasM14
Reifenstein1-150 M15
Reifenstein1-150 M15
Ambiguous genitaliaF16, this paper
Arginine to histidineAmbiguous genitaliaF17
Ambiguous genitaliaF14
Ambiguous genitaliaF14
Ambiguous genitaliaF15
Ambiguous genitaliaM15, 18
Ambiguous genitaliaF19
Ambiguous genitaliaF20
Ambiguous genitaliaM21
  • 1-150 Perineoscrotal hypospadias and gynaecomastia.