5α-还原酶2型缺乏症伴乳房发育一例
Chinese Journal of General Practitioners(2020)
Abstract
5α-还原酶2型缺乏症由于编码5α-还原酶2的基因SRD5A2突变导致睾酮向双氢睾酮转化障碍,表现为男性化不全。本文报道1例纯合的热点突变、临床表现为阴茎短小伴明显乳房发育患儿的资料。单纯依据临床表现易漏诊,基因诊断对确诊、指导治疗至关重要。
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