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Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity.
- Source :
-
Journal of molecular histology [J Mol Histol] 2017 Jun; Vol. 48 (3), pp. 159-167. Date of Electronic Publication: 2017 Mar 15. - Publication Year :
- 2017
-
Abstract
- Androgens are required for normal male sex differentiation and development of male secondary sexual characteristics. Mutations in AR gene are known to cause defects in male sexual differentiation. In current study, we enrolled a 46,XY phenotypically female patient bearing testes in inguinal canal. DNA sequencing of the AR gene detected a missense mutation C.1715A > G (p. Y572C) in exon 2 which is already known to cause complete androgen insensitivity syndrome (CAIS). We focused on the effects of this mutation on the testicular histopathology of the patient. Surface spreading of testicular tissues showed an absence of spermatocytes while H&E staining showed that seminiferous tubules predominantly have only Sertoli cells. This meiotic failure is likely due to the effect of the AR mutation which ultimately leads to Sertoli cell only syndrome. Tubules were stained with SOX9 and AMH which revealed Sertoli cells maturation arrest. Western blot and realtime PCR data showed that patient had higher levels of AMH, SOX9 and inhibin-B in the testis. Therefore, we suggest that the dysfunctioning of AR by mutation enhances AMH expression which ultimately leads to the failure in maturation of Sertoli cells.
- Subjects :
- Adult
Androgen-Insensitivity Syndrome genetics
Case-Control Studies
Female
Gonadal Dysgenesis, 46,XY
Humans
Inhibins analysis
Male
Mutation, Missense
SOX9 Transcription Factor analysis
Seminiferous Tubules pathology
Sertoli Cells
Spermatocytes
Androgen-Insensitivity Syndrome diagnosis
Receptors, Androgen genetics
Receptors, Peptide analysis
Receptors, Transforming Growth Factor beta analysis
Testis chemistry
Testis pathology
Subjects
Details
- Language :
- English
- ISSN :
- 1567-2387
- Volume :
- 48
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Journal of molecular histology
- Publication Type :
- Academic Journal
- Accession number :
- 28299491
- Full Text :
- https://doi.org/10.1007/s10735-017-9714-7