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作 者:Paul Saenger Margaret Steiner
机构地区:[1]NYU langone Hospital-Long Island,Mineola,NY,USA
出 处:《Pediatric Investigation》2021年第4期323-324,共2页儿科学研究(英文)
摘 要:5α-reductase deficiency(5α-red def)is an autosomal recessive condition caused by a homozygous mutation in the 5α-red type 2 gene(5α-R2).The condition is very rare,it only affects males and is characterized by a broad spectrum of presentations most apparent in the external male genitalia.The condition was first described in 1974 in the Dominican Republic,^(1-3) it occurs however in many parts of the world.The current series of 90 male patients from China with 5α-red def is one of the largest series described to date.
关 键 词:TESTOSTERONE TREATMENT APPARENT
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