Article
Androgen receptor gene mutations in 46,XY females with germ cell tumours.
Human reproduction (Oxford, England) - 1 Mar 1999
Chen C P, Chern S R, Wang T Y, Wang W, Wang K L, Jeng C J
Abstract excerpt
We present clinical findings and molecular characterization in two patients previously diagnosed as 46,XY female gonadal dysgenesis with germ cell tumour. Both patients showed a female general phenotype with unambiguously female external genitalia and primary amenorrhoea compatible with complete androgen insensitivity syndrome. The first patient, at the age of 31 years, developed a dysgerminoma measuring 8 x 13 x...
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