Clinical characteristics and treatment of azoospermia and severe oligospermia patients with Y‐chromosome microdeletions

SUMMARY Clinical characteristics, testicular pathology, serum levels of reproductive hormones, and genetic analysis were compared among 100 azoospermic, 20 oligozoospermic cases with azoospermia factor (AZF) microdeletion, and 50 fertile males to evaluate the relationship between the AZF microdeletion regions and the azoospermia phenotype. AZF microdeletion region, testicular volume, and serum reproductive hormone levels of patients were compared against histological examination of testicular biopsies. The number of cases of AZFa, AZFb, AZFc, AZFb + c, and AZFa + b + c microdeletion was respectively 2 (1.7%), 15 (12.5%), 77 (64.2%), 24 (20.0%), and 2 (1.7%). The testicular volume of patient with AZF microdeletion was smaller ( P < 0.01), while luteinizing hormone (LH) and follicle‐stimulating hormone (FSH) levels were significantly higher than that of fertile individuals ( P < 0.01 and P < 0.05, respectively). Among the patients, testicular volume with AZFb‐microdeletion cases was larger compared to patients with AZFc or AZFb + c microdeletions ( P < 0.05 and P < 0.01, respectively), whereas FSH levels were significantly lower than that of AZFc or AZFb + c microdeletions ( P < 0.05). The Johnsen score of patients with an AZFb + c microdeletion was lower than that of patients with AZFb and AZFc microdeletions, but no significant difference was observed. Pathological findings of testicular biopsies poorly correlated with the pattern of AZF deletion, with the AZFc microdeletion exhibiting the most varied phenotypes. In subsequent assisted reproductive treatments, sperm from patients with an AZFc microdeletion that was obtained by testicular sperm aspiration (TESA) or microdissection testicular sperm extraction (m‐TESE) were more likely to result in pregnancy. Combined with testis pathology pattern, the specific region of AZF microdeletion and hormonal assessments provide reliable prognostic information on the chance of successful sperm retrieval for assisted reproductive technologies. Mol. Reprod. Dev. 80: 908–915, 2013. © 2013 Wiley Periodicals, Inc .