A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male

Clinical Case Reports

Setilla Dalili¹  Shaahin Koohmanaee¹  Afagh Hassanzadeh Rad²  Bahareh Rabbani³  Nejat Mahdieh³ 

[1] Pediatric Endocrinologist, Pediatric Diseases Research Center Guilan University of Medical Sciences Rasht Iran;Phd of Linguistics, Pediatric Diseases Research Center Guilan University of Medical Sciences Rasht Iran;Rajaie Cardiovascular Medical and Research Center Iran University of Medical SciencesNiayesh‐Vali asr Intersection Tehran Iran;

关键词: disorders of sex development;    pseudohermaphroditism;    SRD5A2;    variant;   

DOI  :  10.1002/ccr3.3028

来源: DOAJ

【 摘 要 】

Abstract 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.

【 授权许可】

Unknown