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Updated: Jun 21, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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一个不寻常的17-基酶缺乏症病例,呈现出矮身

Fatma Özgüç Çömlek1, Uğur Gümüş2

  • 1Pediatric Endocrinology, Gaziantep Children Hospital, Turkey.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
|July 13, 2024
PubMed
概括

17α-基酶缺乏,一种影响皮质醇和性类固醇生产的条件,可以呈现异常. 这一案例突出了一个14岁的女性,身材矮小,青春期延迟,被诊断患有CYP17A1基因突变.

关键词:
缺少17-α-基酶的情况迟到的青春期延迟的青春期矮身的身材低矮的人.

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