What is the role of genetics in the etiology of cryptorchidism?

Updated: Dec 17, 2020
  • Author: Joel M Sumfest, MD; Chief Editor: Edward David Kim, MD, FACS  more...
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Answer

Kolon et al demonstrated mutations in the developmental homeobox gene, HOXA10, in boys with cryptorchidism and polymorphisms in patients with cryptorchidism and in the general population. [5] Analysis of paralogous and orthologous genes of HOXA10 will help elucidate the role of regulatory genes in normal and abnormal testicular descent. Several authors have examined the role of various gene alterations in humans; however, despite findings in animal models, no human isolated cryptorchidism gene has yet been identified. This further supports the notion that the etiology of cryptorchidism is multifactorial.


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