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Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity
- Source :
- Journal of molecular histology. 48(3)
- Publication Year :
- 2016
-
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 :
- 0301 basic medicine
Adult
Male
endocrine system
medicine.medical_specialty
Histology
Receptors, Peptide
Physiology
Mutation, Missense
SOX9
Biology
Andrology
Sertoli cell-only syndrome
03 medical and health sciences
0302 clinical medicine
Complete androgen insensitivity syndrome
Spermatocytes
Internal medicine
Testis
medicine
Humans
Inhibins
Gonadal Dysgenesis, 46,XY
030219 obstetrics & reproductive medicine
Sexual differentiation
Sertoli Cells
urogenital system
SOX9 Transcription Factor
Cell Biology
General Medicine
Androgen-Insensitivity Syndrome
Seminiferous Tubules
medicine.disease
Sertoli cell
Androgen receptor
030104 developmental biology
Endocrinology
medicine.anatomical_structure
Receptors, Androgen
Case-Control Studies
Androgen insensitivity syndrome
Female
Male sex differentiation
Receptors, Transforming Growth Factor beta
Subjects
Details
- ISSN :
- 15672387
- Volume :
- 48
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Journal of molecular histology
- Accession number :
- edsair.doi.dedup.....52b3a001f13a00dfc6da17bf551cf537