Background: Testicular morphology and immunohistochemical studies have never been reported in genetically\ndocumented adult patients with 5 alpha-reductase type 2 deficiency (5?-R2 deficiency).\nCase presentation: We describe the testicular histopathology of a 17-year-old XY subject with 5?-R2 deficiency\ncaused by the recurrent homozygous Gly115Asp loss of function mutation of the SRD5A2 gene.We also performed\nan immunohistochemical analysis in order to further study the relationship between seminiferous tubules structure,\nSertoli cell differentiation and androgenic signaling impairment in this case. We thus evaluated the testicular\nexpression of the anti-M�¼llerian hormone (AMH), androgen receptor (AR) and 3?-hydroxysteroid dehydrogenase\n(3?HSD). Histological analysis revealed a heterogeneous aspect with a majority (92%) of seminiferous tubules (ST)\npresenting a mature aspect but containing only Sertoli cells and devoid of germ cells and spermatogenesis. Focal\nareas of immature ST (8%) were also found. Testicular AR and 3?HSD expression were detected in adult male\ncontrol, 5?-R2 deficiency and CAIS subjects. However, AMH expression was heterogeneous (detectable only in\nfew AR negative prepubertal ST, but otherwise repressed) in the 5?-R2 deficiency, conversely to normal adult testis\nin which AMH was uniformly repressed and to an adult CAIS testis in which AMH was uniformly and strongly\nexpressed.\nConclusion: Intratesticular testosterone can repress AMH by itself, independently of its metabolism into\ndihydrotestosterone. We also compare our results to the few post pubertal cases of 5?-R2 deficiency with available\nhistological testicular description, reported in the literature. We will discuss these histological findings, in the\nmore general context of evaluating the fertility potential of these patients if they were raised as males and were\nazoospermic.
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