Phenotypic diversity in siblings with partial androgen insensitivity syndrome

Evans, Bronwen Alice James ORCID: https://orcid.org/0000-0002-3082-1008, Hughes, I. A., Bevan, C. L., Patterson, M. N. and Gregory, John Welbourn ORCID: https://orcid.org/0000-0001-5189-3812 1997. Phenotypic diversity in siblings with partial androgen insensitivity syndrome. Archives of Disease in Childhood 76 (6) , pp. 529-531. 10.1136/adc.76.6.529

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Abstract

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	BMJ Publishing Group
ISSN:	0003-9888
Last Modified:	27 Oct 2022 09:21
URI:	https://orca.cardiff.ac.uk/id/eprint/65343

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