Partial AZFc deletions in infertile men with cryptorchidism

Area of Science:

• Genetics
• Reproductive Medicine
• Urology

Background:

• The gr/gr deletion, a specific partial AZFc deletion, is implicated as a genetic risk factor for spermatogenic impairment and testicular cancer.
• Both spermatogenic impairment and testicular cancer are components of testicular dysgenesis syndrome (TDS).

Purpose of the Study:

• To investigate the role of the gr/gr deletion in the pathogenesis of cryptorchidism, another component of testicular dysgenesis syndrome.
• To determine the association between gr/gr deletion and cryptorchidism.

Main Methods:

• Screening of 146 cryptorchid and 140 infertile patients using a sequence tagged site plus/minus method.
• Confirmation and characterization of deletions through CDY1/DAZ gene dosage and copy analysis.

Main Results:

• The gr/gr deletion frequency was 4.2% in cryptorchid patients and 5% in non-cryptorchid patients.
• No significant differences in CDY1/DAZ gene patterns were observed between cryptorchid and non-cryptorchid groups.
• A significant difference in deletion frequency was found only when comparing cryptorchid patients with normospermic controls (P < 0.03).

Conclusions:

• The study found no relationship between gr/gr deletion and cryptorchidism.
• Data further support the detrimental effect of gr/gr deletion on spermatogenesis.
• Screening for gr/gr deletion is advisable for all patients with severe male factor infertility prior to intracytoplasmic sperm injection (ICSI), irrespective of cryptorchidism history, due to potential transmission to male offspring.