PT  - JOURNAL ARTICLE
AU  - B A J Evans
AU  - I A Hughes
AU  - C L Bevan
AU  - M N Patterson
AU  - J W Gregory
TI  - Phenotypic diversity in siblings with partial androgen insensitivity syndrome
AID  - 10.1136/adc.76.6.529
DP  - 1997 Jun 01
TA  - Archives of Disease in Childhood
PG  - 529--531
VI  - 76
IP  - 6
4099  - http://adc.bmj.com/content/76/6/529.short
4100  - http://adc.bmj.com/content/76/6/529.full
SO  - Arch Dis Child1997 Jun 01; 76
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.