Abstract
Background: Cryptorchidism is one of the most frequent congenital birth defects in male children and is present in 2–4% of full-term male births. It has several possible health effects including reduced fertility, increased risk for testicular neoplasia, testicular torsion, and psychological consequences. Cryptorchidism is often diagnosed as comorbid; copresent with other diseases. It is also present in clinical picture of several syndromes. However, this field has not been systematically studied. The aim of the present study was to catalog published cases of syndromes which include cryptorchidism in the clinical picture and associated genomic information.Methods: The literature was extracted from Public/Publisher MEDLINE and Web of Science databases, using the keywords including: syndrome, cryptorchidism, undescended testes, loci, and gene. The obtained data was organized in a table according to the previously proposed standardized data format. The results of the study were visually represented using Gephi and karyotype view.Results: Fifty publications had sufficient data for analysis. Literature analysis resulted in 60 genomic loci, associated with 44 syndromes that have cryptorchidism in clinical picture. Genomic loci included 38 protein-coding genes and 22 structural variations containing microdeletions and microduplications. Loci, associated with syndromic cryptorchidism are located on 16 chromosomes. Visualization of retrieved data is presented in a gene-disease network.Conclusions: The study is ongoing and further studies will be needed to develop a complete catalog with the data from upcoming publications. Additional studies will also be needed for revealing of molecular mechanisms associated with syndromic cryptorchidism and revealing complete diseasome network.
Highlights
Cryptorchidism or undescended testes is characterized as the failure of one or both testes and associated structures to descend from retroperitoneal abdomen to their normal position in scrotal sac during fetal development [1]
Cryptorchidism is often comorbid with other symptoms and syndromes associated with chromosomal mutations and genetic variations
We have extracted data from WoS and PubMed and cataloged 60 genetic variants reported to be associated with syndromic cryptorchidism
Summary
Cryptorchidism or undescended testes is characterized as the failure of one (unilateral) or both (bilateral) testes and associated structures to descend from retroperitoneal abdomen to their normal position in scrotal sac during fetal development [1]. It is one of the most frequent congenital birth defects in male children and is present in 2–4% of full-term male births [2]. Cryptorchidism is one of the most frequent congenital birth defects in male children and is present in 2–4% of full-term male births It has several possible health effects including reduced fertility, increased risk for testicular neoplasia, testicular torsion, and psychological consequences. The aim of the present study was to catalog published cases of syndromes which include cryptorchidism in the clinical picture and associated genomic information
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