Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity.
J Mol Histol
; 48(3): 159-167, 2017 Jun.
Article
em En
| MEDLINE
| ID: mdl-28299491
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.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Resistência a Andrógenos
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Testículo
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Receptores Androgênicos
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Receptores de Fatores de Crescimento Transformadores beta
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Receptores de Peptídeos
Tipo de estudo:
Observational_studies
Limite:
Adult
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Female
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Humans
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Male
Idioma:
En
Revista:
J Mol Histol
Ano de publicação:
2017
Tipo de documento:
Article