A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male

A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male

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.

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Bibliographische Detailangaben
Veröffentlicht in:Clinical case reports 2020, Vol.8 (10), p.1947-1951
Hauptverfasser: Dalili, Setilla, Rabbani, Bahareh, Hassanzadeh Rad, Afagh, Koohmanaee, Shaahin, Mahdieh, Nejat
Format: Report
Sprache:eng
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Zusammenfassung: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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.3028