title: Molecular mechanisms of cryptorchidism development: update of the database, disease comorbidity, and initiative for standardization of reporting in scientific literature.
abstract: Cryptorchidism is a frequent urogenital abnormality that may be present at birth (congenital form) or develop later in life (acquired form). It represents 2-4% full-term male births. It has a potential effect on health; defects in testes descent usually cause impaired spermatogenesis resulting in reduced fertility and increased rates of testicular neoplasia, and testicular torsion. In our previous study, we developed a cryptorchidism gene database which consists of 217 genomic variations associated with development of cryptorchidism in seven mammalian species. The number of studies and study approaches in this field are increasing; therefore, update of the database was needed. The search of multi-omics data was performed and the updated database includes 280 genomic variations associated with cryptorchidism in seven species. The catalog has been complemented with additional data including: number of participants (patients/controls), race/ethnicity, clinical data (age period at diagnosis), congenital/acquired cryptorchidism, unilateral (left/right)/bilateral cryptorchidism, disease comorbidity, and disease ontology. Collected data revealed that cryptorchidism has been reported to be co-present with 150 comorbid conditions, including several syndromes, reproductive, cardiovascular, ophthalmologic, dermatologic, mental, and bone disorders, deafness, and cancer. However, updating the database is time-consuming because of the heterogeneity of results and methodology in scientific literature. The field lacks a standardized format for reporting associations between genotype and phenotype which would enable faster development of the database, data integration, sharing, and facilitate biomarker development. Therefore, in this study, we updated a database of cryptorchidism genes and suggested a first step toward standardization of the format for reporting results of original as well as review studies which we suggest implementing into the scientific literature that reports genotype-cryptorchidism associations.
authors.affiliation: Department of Animal Science, Biotechnical Faculty, University of Ljubljana, Domzale, Slovenia.
authors.forename: K
authors.initials: K
authors.lastname: Urh
authors.affiliation: Department of Animal Science, Biotechnical Faculty, University of Ljubljana, Domzale, Slovenia.
authors.forename: T
authors.identifier: 0000-0002-0465-1762
authors.initials: T
authors.lastname: Kunej
mesh_terms: D003456:Cryptorchidism / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D016208:Databases, Factual / Q000592:standards*; D005298:Fertility; D006801:Humans; D008297:Male; D012015:Reference Standards
keywords: comorbidity; cryptorchidism; genes; multi-omics data integration; reporting recommendations