cryptorchidism

Introduction

failure of testis to descend

Epidemiology

• one of the most frequent congenital abnormalities in humans, involving 2-5% of male births

Genetics

• associated with defects in RXFP2 gene
• associated with defects in INSL3 gene (low frequency)

Laboratory

• serum beta-chorionic gonadotropin (serum beta-hCG)
  • tumor marker most likely to be increased in young man with cryptorchidism corrected with orchidopexy
  • increased in 10% of seminomas
  • may be increased in non-seminomas
  • correlates with trophoblasts within tumor
• serum alpha-fetoprotein is NEVER increased in pure seminomas

Complications

• increased risk of infertility & testicular cancer (seminoma)

Management

• orchidopexy

More general terms

• developmental disorder
• male genital disease

Additional terms

• testis

Database

• OMIM: https://mirror.omim.org/entry/219050