Page 42 - Eshre 2018
P. 42

 Male germ cell differentiation: Y chromosome
     Chuva de Sousa Lopes   13
  Male germ cell differentiation: niche (males)?
• XY & niche is the problem: XY gonadal dysgenesis
• Undifferent gonad => differentiate into testis
• Most important transcription factor SRY
• Lack of testes lack of testosterone => female phenotype
lack of AMH
• XX & niche is the problem: XX male syndrome SRY positive – translocation to X chr
SRY negative – rare (SOX9 dupl; SF1 KO)
   Chuva de Sousa Lopes   14
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