Genetic Basis of Cryptorchidism: Prospective Study


Clinical Trial

Offered by: Nemours
Location: Delaware Valley

What is the trial about?

This study aims to identify genes that may be involved in the development of undescended testicles in boys.

Who can participate?

Boys age 0-17 years who are having surgery for undescended testicles, circumcision, meatal stenosis, kidney stones, or other procedures who do not have multiple other health problems.

What is involved?

For Boys with Undescended Testis

For the first part of the research we will perform what is called a genome-wide association study looking for all the genes that may contribute to the possibility of developing undescended testis. Genes are present in the deoxyribonucleic acid (DNA)-containing portion of cells and they provide the code for proteins made by the body. DNA will be taken from a sample of tissue that is removed from your child at the time of surgery. Whenever possible, we will use tissue that needs to be removed anyway as part of the surgery which would include the hernia sac, the cremaster muscle, and/or appendix testis (if present). In all boys, we must release the cremaster muscle, which raises and lowers the testicle in order to bring the testis down into a stable position in the scrotum. As we release this muscle, we will remove a portion from the cut edge. The appendix testis is a tag of tissue that serves no purpose and sometimes becomes inflamed and causes pain. If neither of these tissues are present or are not enough, we will remove a portion of the cut end of the thin ligament called the gubernaculum, which is the leftover remnant of the structure that normally guides the testicle into the scrotum before birth. We need to release this ligament in order to move the testicle down to the scrotum, and so we can remove a small part of the cut edge. The DNA sample will be analyzed at the Center for Applied Genomics at CHOP, where special chips are routinely used to look for variations in genes across all the chromosomes. Our results will be compared with thousands of samples of boys in the database with normally descended testes. DNA samples will also be obtained from both parents whenever possible to be used in the second part of the study. A questionnaire that gives us information about pregnancy history will be given to the biological mother to complete.

For Parents of Boys with Undescended Testis (collection of parental saliva)

We will ask all parents of these boys if they will be willing to provide a saliva sample for DNA analysis of specific genes that appear to be associated with undescended testis. Once we find genes that are different between boys with and without descended testes, we will do further studies to prove that these findings are correct. These will include analyzing specific genes in samples from boys who have an undescended testis and in both parents, whenever possible, to see if a gene variant is inherited. This portion of the study is completely voluntary and can be declined by one or both parents without affecting the child’s ability to participate in tissue collection.

For Boys in the Control Group

Once we find genes that are different between boys with and without descended testes, we will do further studies to prove that these findings are correct. These will include analyzing specific genes in samples from boys who have a circumcision at our hospital and in both parents, whenever possible. For boys undergoing circumcision, we will save a part of the foreskin which is normally thrown away. For boys undergoing other procedures, we will collect a single 3 mL (less than one teaspoon) blood sample from an existing venous line placed for surgery. There is no collection of parent saliva. After the skin or blood sample is collected, there will be no further visits or procedures required for the study. A questionnaire that gives us information about pregnancy history will be given to the biological mother to complete. Your child will be cared for by the urologist in the usual way as he recovers from surgery.

Contact Nemours Clinical Trials

Trial Name: Genetic Basis of Cryptorchidism: Prospective Study

Contact Information

(800) 354-5690
clinicaltrials@nemours.org