Journal article

Familial bilateral cryptorchidism is caused by recessive variants in RXFP2

Katie Ayers, Rakesh Kumar, Gorjana Robevska, Shoni Bruell, Katrina Bell, Muneer A Malik, Ross A Bathgate, Andrew Sinclair

Journal of Medical Genetics | BMJ PUBLISHING GROUP | Published : 2019


BACKGROUND: Cryptorchidism or failure of testicular descent is the most common genitourinary birth defect in males. While both the insulin-like peptide 3 (INSL3) and its receptor, relaxin family peptide receptor 2 (RXFP2), have been demonstrated to control testicular descent in mice, their link to human cryptorchidism is weak, with no clear cause-effect demonstrated. OBJECTIVE: To identify the genetic cause of a case of familial cryptorchidism. METHODS: We recruited a family in which four boys had isolated bilateral cryptorchidism. A fourth-degree consanguineous union in the family was reported. Whole exome sequencing was carried out for the four affected boys and their parents, and variants..

View full abstract


Awarded by National Health and Medical Research Council of Australia (NHMRC)

Awarded by NHMRC

Funding Acknowledgements

Genomics work and GR are supported by National Health and Medical Research Council of Australia (NHMRC) program grant [1074258]. KLA is supported by an NHMRC project grant [1156942]. AHS is supported by a NHMRC fellowship [1154187]. Research at the Florey was supported by NHMRC project grants [1100676] and [1043750] and the Victorian Government Operational Infrastructure Support Program. RADB is supported by an NHMRC Research Fellowship [1135837].