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S578N mutation of the androgen receptor in an adolescent with complete androgen insensitivity syndrome
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- Author:
- No author available
- Journal Title:
- CHINESE MEDICAL JOURNAL
- Issue:
- 11
- DOI:
- 10.3760/cma.j.issn.0366-6999.2010.11.024
- Key Word:
- androgen insensitivity syndrome;androgen receptors;male pseudohermaphroditism;disorder of sex development
Abstract： @@ Androgen insensitivity syndrome (AIS) was first described by the American gynecologist Morris in 1953 and was initially described in 82 patients.1 The syndrome was designated "testicular feminization syndrome" , because the testes produce hormones with estrogen-like actions.1 Clinical AIS manifestations include the appearance of normal female external genitalia without internal female genital organs. Other clinical manifestations include undescended testes, normal female breast development, and scant axillary and pubic hair. AIS is the most common condition that cancause male undermasculinisation.
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