Androgen insensitivity syndrome

（重定向自Androgen insensitivity）

Women with AIS and related DSD conditions

Location and structure of the human androgen receptor: Top, the AR gene is located on the proximal long arm of the X chromosome. Middle, the eight exons are separated by introns of various lengths. Bottom, illustration of the AR protein, with primary functional domains labeled (not representative of actual 3-D structure).[3]

Normal function of the androgen receptor: Testosterone (T) enters the cell and, if 5-alpha-reductase is present, is converted into dihydrotestone (DHT). Upon steroid binding, the androgen receptor (AR) undergoes a conformational change and releases heat shock proteins (hsps). Phosphorylation (P) occurs before or after steroid binding. The AR translocates to the nucleus where dimerization, DNA binding, and the recruitment of coactivators occur. Target genes are transcribed (mRNA) and translated into proteins.[3][13][19][73]

Androgen insensitivity syndrome (AIS) is a condition that results in the partial or complete inability of the cell to respond to androgens. The unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty, but does not significantly impair female genital or sexual development. As such, the insensitivity to androgens is clinically significant only when it occurs in genetic males (i.e. individuals with a Y-chromosome, or more specifically, an SRY gene). Clinical phenotypes in these individuals range from a normal male habitus with mild spermatogenic defect or reduced secondary terminal hair, to a full female habitus, despite the presence of a Y-chromosome.

单词	Androgen insensitivity
释义	Androgen insensitivity 原声例句 Osmosis-生殖 A rarer cause of primary amenorrhea is androgen insensitivity syndrome. 导致原发性闭经的一个罕见原因是雄激素不敏感综合征。 Osmosis-生殖 A karyotype can be done for Turner syndrome and androgen insensitivity syndrome. 对于Turner综合征、雄激素不敏感综合征，可进行染色体核型分析。 Osmosis-生殖 With androgen insensitivity syndrome, individuals typically have sparse body hair, and little to no pubertal acne. 对于雄激素不敏感综合征，患者往往体毛稀疏、少量甚至没有青春期粉刺。英语百科 Androgen insensitivity syndrome （重定向自Androgen insensitivity） Androgen insensitivity syndrome (AIS) is a condition that results in the partial or complete inability of the cell to respond to androgens. The unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty, but does not significantly impair female genital or sexual development. As such, the insensitivity to androgens is clinically significant only when it occurs in genetic males (i.e. individuals with a Y-chromosome, or more specifically, an SRY gene). Clinical phenotypes in these individuals range from a normal male habitus with mild spermatogenic defect or reduced secondary terminal hair, to a full female habitus, despite the presence of a Y-chromosome.
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