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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

Lavinia Vija1234, Sophie Ferlicot5, Diana Paun3, Hélène Bry-Gauillard6, Gabriela Berdan7, Issam Abd-Alsamad8, Marc Lombès126 and Jacques Young126*

Author Affiliations

1 Faculté de Médecine Paris-Sud, Univ Paris-Sud, UMR-S693, Le Kremlin-Bicêtre F-94276, France

2 Inserm, U693, Le Kremlin-Bicêtre F-94276, France

3 “Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania

4 Service de Biophysique et Médecine Nucleaire, Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Le Kremlin-Bicêtre F-94275, France

5 Univ Paris-Sud, Assistance Publique-Hôpitaux de Paris, Service d’Anatomo-Pathologie, Hôpital Bicêtre, Le Kremlin-Bicêtre F-94276, France

6 Service d’Endocrinologie et maladies de la Reproduction, Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, 78, rue du Général Leclerc, Le Kremlin-Bicêtre F-94275, France

7 Department of Pathology,” Burghele” Hospital, Bucharest, Romania

8 Service d’Anatomo-Pathologie, Centre Hospitalier Intercommunal de Creteil, Creteil F-94276, France

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BMC Endocrine Disorders 2014, 14:43  doi:10.1186/1472-6823-14-43

Published: 23 May 2014



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 immunohistochemical analysis in order to further study the relationship between seminiferous tubules structure, Sertoli cell differentiation and androgenic signaling impairment in this case. We thus evaluated the testicular expression of the anti-Müllerian hormone (AMH), androgen receptor (AR) and 3β-hydroxysteroid dehydrogenase (3βHSD). Histological analysis revealed a heterogeneous aspect with a majority (92%) of seminiferous tubules (ST) presenting a mature aspect but containing only Sertoli cells and devoid of germ cells and spermatogenesis. Focal areas of immature ST (8%) were also found. Testicular AR and 3βHSD expression were detected in adult male control, 5α-R2 deficiency and CAIS subjects. However, AMH expression was heterogeneous (detectable only in few AR negative prepubertal ST, but otherwise repressed) in the 5α-R2 deficiency, conversely to normal adult testis in which AMH was uniformly repressed and to an adult CAIS testis in which AMH was uniformly and strongly expressed.


Intratesticular testosterone can repress AMH by itself, independently of its metabolism into dihydrotestosterone. We also compare our results to the few post pubertal cases of 5α-R2 deficiency with available histological testicular description, reported in the literature. We will discuss these histological findings, in the more general context of evaluating the fertility potential of these patients if they were raised as males and were azoospermic.

5α-reductase type 2 deficiency; Testicular histology; Sertoli cell; Anti-Müllerian hormone; Androgen receptor