Male infertility and genitourinary birth defects: there is more than meets the eye

The document reviewed the complex relationship between male infertility and genitourinary (GU) birth defects, such as cryptorchidism and hypospadias, emphasizing their genetic underpinnings and systemic implications. Male infertility was present in up to 50% of infertile couples, with GU birth defects often linked to genetic abnormalities like copy number variants. Cryptorchidism affected 9% of male births and was associated with increased risks of testicular malignancy and infertility, while hypospadias could result in diminished semen quality. The review highlighted the importance of advanced genetic techniques in identifying genetic changes and emphasized the need for comprehensive evaluation of GU defects in the context of male infertility to identify potential systemic conditions. Various genes, including MYC-associated zinc finger protein (MAZ), CRK like proto-oncogene (CRKL), and orthodenticle homeobox 1 (OTX1), were identified as contributors to these conditions, underscoring the complex genetic underpinnings of male infertility and GU birth defects.