Phenotypic diversity in siblings with partial androgen insensitivity syndrome
a Department of Child Health, University of
Wales College of Medicine, Heath Park, Cardiff CF4 4XN, b Department of Paediatrics,
University of Cambridge, Addenbrooke's Hospital, Cambridge
Correspondence to: Dr Evans.
Accepted 5 March 1997
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.
© 1997 by Archives of Disease in Childhood
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