A missense mutation in the androgen receptor gene causing androgen insensitivity syndrome in a Chinese family

A missense mutation in the androgen receptor gene causing androgen insensitivity syndrome in a Chinese family

Dear Editor, Androgen Insensitivity Syndrome （AIS） is an X-linked recessive genetic disorder presenting as male pseudohermaphroditism with gender ambiguity or reversal. According to the reaction to androgens, subjects with AIS can exhibit varying degrees of feminization, mainly in two forms.

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Veröffentlicht in:Asian journal of andrology 2017-03, Vol.19 (2), p.260-261
Hauptverfasser: Li, Lin, Liu, Wen-Miao, Liu, Mei-Xin, Zheng, Shu-Qi, Zhang, Ji-Xia, Che, Feng-Yuan, Liu, Shi-Guo
Format: Artikel
Sprache:eng
Schlagworte:
Androgen-Insensitivity Syndrome - genetics
Asian Continental Ancestry Group
China
Homozygote
Humans
Letter to the Editor
Male
Mutation, Missense
Receptors, Androgen - genetics
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Zusammenfassung:Dear Editor, Androgen Insensitivity Syndrome （AIS） is an X-linked recessive genetic disorder presenting as male pseudohermaphroditism with gender ambiguity or reversal. According to the reaction to androgens, subjects with AIS can exhibit varying degrees of feminization, mainly in two forms.
ISSN:1008-682X
1745-7262
DOI:10.4103/1008-682X.172647