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A Novel Pathogenic Variant of Srd5a2 in an Iranian Psuedohermaphrodite Male Publisher



Dalili S1 ; Rabbani B2, 3 ; Hassanzadeh Rad A4 ; Koohmanaee S1 ; Mahdieh N3, 5
Authors
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Authors Affiliations
  1. 1. Pediatric Endocrinologist, Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran
  2. 2. Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Niayesh-Vali asr Intersection, Tehran, Iran
  3. 3. Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Phd of Linguistics, Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran
  5. 5. Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Niayesh-Vali asr Intersection, Tehran, Iran

Source: Clinical Case Reports Published:2020


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. © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd
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