[A case of 5α-reductase-2 deficiency with small penis and cryptorchidism]

Y Y Yang; M Wang; Q H Guo; W J Gu; Z H Lyu; J T Dou; Y M Mu

doi:10.3760/cma.j.cn112138-20190927-00665

[A case of 5α-reductase-2 deficiency with small penis and cryptorchidism]

Zhonghua Nei Ke Za Zhi. 2020 Oct 1;59(10):810-813. doi: 10.3760/cma.j.cn112138-20190927-00665.

[Article in Chinese]

Authors

Y Y Yang¹, M Wang², Q H Guo¹, W J Gu¹, Z H Lyu¹, J T Dou¹, Y M Mu¹

Affiliations

¹ Department of Endocrinology, the First Medical Center, Chinese PLA General Hospital, Beijing 100853, China.
² Department of Guobin, the First Medical Center, Chinese PLA General Hospital, Beijing 100853, China.

PMID: 32987485
DOI: 10.3760/cma.j.cn112138-20190927-00665

Abstract

患儿9岁，社会性别男性。主因“阴茎短小”就诊。检查发现，阴茎牵长2 cm，右侧阴囊空虚，右侧腹股沟可触及直径约2 cm质软包块。盆腔超声检查显示无缪勒管结构，右侧腹股沟隐睾，肾上腺大小正常。基因检测显示，SRD5A2基因存在c.680G>A (p.R227Q)纯合子突变，其父亲SRD5A2基因c.680G>A（p.R227Q）杂合突变，母亲SRD5A2基因c.680G>A(p.R227Q)杂合突变。综合文献报道的5α-还原酶-2型缺陷症的临床资料，对该病的临床表现、性别分配及基因特点进行总结。.

Publication types

Case Reports

MeSH terms

3-Oxo-5-alpha-Steroid 4-Dehydrogenase / deficiency*
Cryptorchidism* / genetics
Humans
Male
Penis / pathology
Steroid Metabolism, Inborn Errors* / genetics

Substances

3-Oxo-5-alpha-Steroid 4-Dehydrogenase