Article
Testicular histological and immunohistochemical aspects in a post-pubertal patient with 5 alpha-reductase type 2 deficiency: case report and review of the literature in a perspective of evaluation of potential fertility of these patients.
BMC endocrine disorders - 23 May 2014
Vija Lavinia, Ferlicot Sophie, Paun Diana, Bry-Gauillard Hélène, Berdan Gabriela, Abd-Alsamad Issam, Lombès Marc, Young Jacques
Abstract excerpt
BACKGROUND: Testicular morphology and immunohistochemical studies have never been reported in genetically documented adult patients with 5 alpha-reductase type 2 deficiency (5α-R2 deficiency). CASE PRESENTATION: We describe the testicular histopathology of a 17-year-old XY subject with 5α-R2 deficiency caused by the recurrent homozygous Gly115Asp loss of function mutation of the SRD5A2 gene.We also performed an...
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