Article
Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development.
Molecular human reproduction - 1 Jan 2011
Nie Min, Zhou Qi, Mao Jiangfeng, Lu Shuangyu, Wu Xueyan
Abstract excerpt
Individuals with male karyotype (46,XY) affected by 5α-reductase type 2 deficiency, a rare autosomal recessive inherited disorder, can have an almost female phenotype or partially virilized external genitalia. Mutations in the steroid-5-α-reductase (SRD5A2) gene, leading to functional impairment of 5α-reductase type 2, are responsible for this disorder. Our present study analyzed SRD5A2 gene mutations in eight...
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