A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male.
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ABSTRACT:
SUBMITTER: Dalili S
PROVIDER: S-EPMC7562857 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Publications
A novel pathogenic variant of <i>SRD5A2</i> in an Iranian psuedohermaphrodite male.
Dalili Setilla S Rabbani Bahareh B Hassanzadeh Rad Afagh A Koohmanaee Shaahin S Mahdieh Nejat N
Clinical case reports 20200618 10
Deficiency of the 5-alpha-reductase may have an important role in 46,XY DSD in some cohorts. The prenatal ultrasonography and karyotyping can trigger the attention toward the presence of a DSD in fetus. ...[more]
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