Article
[Differential diagnosis and treatment of girls with 46XY-karyotype and androgen insensitivity syndrome].
Nederlands tijdschrift voor geneeskunde - 7 Apr 2001
Drop S L, Boehmer A L, Slijper F M, Nijman J M, Hazebroek F W, Niermeijer M F
Abstract excerpt
The importance of the secretion and action of androgens during the critical period of male sexual development is exemplified in patients with androgen insensitivity syndrome. Their karyotype is always 46XY. In 2 sisters, aged 11 and 13 years, the androgen insensitivity syndrome was diagnosed based on an androgen receptor gene mutation. Ambiguous genital development of a new-born was shown to be due to a lack of...
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