SF-1基因定位于染色体9q33，参与类固醇合成过程中的一些酶的编码基因的转录调节，该因子的缺乏将导致肾上腺和性腺的发育不全DAX-1基因位于Xq21，该基因的突变可造成先天性肾上腺发育不全和低促性腺素功能减退症。
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