SAT-172 A Case of Male Infertility Syndrome Due to AZFb+c Microdeletion of the Y Chromosome

Abstract Disclosure: R. Atodaria: None. R. Abdelmasih: None. Background: AZF gene microdeletions are the second most common genetic cause of male infertility and are seen in 1 out of every 4000 males. The frequency of these deletions is at least 2-10% in males with azoospermia or oligozoospermia. Sperm retrieval procedures can have suboptimal success rates. Case Presentation A 32-year-old male with prior testicular trauma during childhood presented for an inability to have kids for 3 years. He was previously seen by Urology who found azoospermia, small bilateral hydroceles, and a left varicocele. They suggested repair of the varicocele to address his infertility. His initial labs showed decreased testosterone (263 ng/dL, ref 300-1080 ng/dL), increased prolactin (25.3 ng/mL, ref 2.6 – 13.1 ng/mL), increased follicle-stimulating hormone (26.4 mIU/mL, ref 1.7 – 2.6 mIU/mL), and increased luteinizing hormone (14.3 mIU/mL, ref 1.2 to 7.8 mIU/mL) levels. Repeat testosterone was 204 ng/dL. Pituitary MRI was normal. Chromosome analysis showed an AZFb+c microdeletion. Intervention options for sperm injection and retrieval were discussed. The patient elected to re-discuss surgical repair of the varicocele with Urology in light of these genetic findings before making a decision about pursuing sperm retrieval procedures. A referral to genetics was sent to discuss the potential risk of passing on Y chromosome microdeletions to his male offspring. Discussion: We present a case of male infertility due to azoospermia from an AZFb+c microdeletion. In general, AZF microdeletions are rare yet can convey a significant burden onto affected patients. Diagnosis is crucial because of its prognostic value. For instance, AZFc deletions are the most common subtype and have the least severe phenotype, with up to 50% of azoospermic patients successfully undergoing testicular sperm extraction. On the other hand, AZFa and AZFb deletions are associated with poor chance of sperm retrieval due to a complete lack of germ cells or maturation arrest of germ cells, respectively. As such, sperm injection and sperm extraction procedures are typically contraindicated in patients with AZFa or AZFb microdeletions due to very high failure rates. With less severe microdeletions, such as the AZFb+c deletion seen in our patient, affected patients frequently develop hypospermatogenesis which can leave a reasonable chance of successful sperm retrieval if done in a timely manner. Thus, physicians should maintain low thresholds for ordering chromosome microarrays in infertile males since earlier diagnosis may lead to earlier intervention with higher chance of success. Presentation: Saturday, July 12, 2025