RT Journal Article
SR Electronic
T1 Phenotypic diversity in siblings with partial androgen insensitivity syndrome
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP 529
OP 531
DO 10.1136/adc.76.6.529
VO 76
IS 6
A1 B A J Evans
A1 I A Hughes
A1 C L Bevan
A1 M N Patterson
A1 J W Gregory
YR 1997
UL http://adc.bmj.com/content/76/6/529.abstract
AB The androgen insensitivity syndrome is a heterogeneous disorder with a wide spectrum of phenotypic abnormalities, ranging from complete female to ambiguous forms that more closely resemble males. The primary abnormality is a defective androgen receptor protein due to a mutation of the androgen receptor gene. This prevents normal androgen action and thus leads to impaired virilisation. A point mutation of the androgen receptor gene affecting two siblings with partial androgen insensitivity syndrome is described. One had cliteromegaly and labial fusion and was raised as a girl, whereas the other sibling had micropenis and penoscrotal hypospadias and was raised as a boy. Both were shown to have the arginine 840 to cysteine mutation. The phenotypic variation in this family is thus dependent on factors other than abnormalities of the androgen receptor gene alone.