In:
Journal of Clinical Images and Medical Case Reports, Open Source Publications, Vol. 3, No. 4 ( 2022-04-15)
Abstract:
5-alpha-Reductase deficiency is one of the causes involving disorders of sex development 46, XY. Mutations in SRD5A2 gene lead to a wide clinical manifestation, sometimes not giving a clear outlook for a clinical diagnosis, making molecular diagnosis an important diagnostic pillar of these conditions. Here, we show the importance of molecular and pedigree analysis for diagnosis and adequate genetic counseling. Keywords: 46, XY disorder of sex development; ambiguous genitalia; 5-alpha-Reducatse type 2; novel mutation.
Type of Medium:
Online Resource
ISSN:
2766-7820
DOI:
10.52768/2766-7820/1795
Language:
Unknown
Publisher:
Open Source Publications
Publication Date:
2022
