Etiology of azoospermia in a military population.

PURPOSE: Male infertility is commonly seen at urology clinics and 10% to 20% of infertile males are found to be azoospermic. Azoospermia is classically categorized as nonobstructive or obstructive. This classification tailors the evaluation, diagnosis and proper treatment. We performed a retrospective study to provide an updated etiology of azoospermia in patients in the United States in a universal health care model. MATERIALS AND METHODS: We retrospectively reviewed the records of men with azoospermia who presented to our institution between 2004 and 2012. Laboratory data were analyzed, included semen analysis, follicle-stimulating hormone, luteinizing hormone, testosterone, semen fructose and genetic studies. Patients underwent scrotal exploration as indicated for testis biopsy and sperm extraction. RESULTS: We reviewed 139 outpatient records. Nonobstructive azoospermia was diagnosed in 99 men (71%), including 33 (34%) identified with Sertoli-cell only syndrome. Other etiologies included an idiopathic cause in 25 cases (26%), Klinefelter syndrome in 9 (9%), maturation arrest in 9 (9%), Y chromosome microdeletion in 5 (5%), cryptorchidism in 4 (4%), trauma in 4 (4%), exogenous testosterone supplementation in 4 (4%) and other genetic disorders in 6 (6%). Obstructive azoospermia was identified in 40 men (29%), of whom 16 (40%) had congenital bilateral absence of the vas deferens. Other etiologies included an idiopathic cause in 11 cases (28%), an iatrogenic condition due to a surgical cause in 5 (13%), ejaculatory duct obstruction in 3 (8%), trauma in 1 (3%), retrograde ejaculation in 1 (3%), vas deferens occlusion in 2 (5%) and unilateral absence of the vas deferens in 1 (3%). CONCLUSIONS: This study delineates the etiology of azoospermia in men with universal access to care.

The relationship between anogenital distance and the androgen receptor CAG repeat length.

Anogenital distance (AGD) is used to define degree of virilization of genital development, with shorter length being associated with feminization and male infertility. The first exon of the androgen receptor (AR) consists of a polymorphic sequence of cytosine-adenine-guanine (CAG) repeats, with longer CAG repeat lengths being associated with decreased receptor function. We sought to determine if there is an association between AGD and AR CAG repeat length. A cross-sectional, prospective cohort of men evaluated at a urology clinic at a single institution was recruited. AGD (the distance from the posterior scrotum to the anal verge) and penile length (PL) were measured. Sanger DNA sequence analysis was used to define CAG repeat length. AGD and CAG repeat lengths in 195 men were determined. On unadjusted analysis, there was no linear relationship between CAG repeat length and PL (P=0.17) or AGD (P=0.31). However, on sub-population analyses, those men with longer CAG repeat lengths (>26) had significantly shorter AGDs compared to men with shorter CAG repeat lengths. For example, the mean AGD was 41.9 vs. 32.4 mm with a CAG repeat length ≤26 vs. >26 (P=0.01). In addition, when stratifying the cohort based on AGD, those with AGD less than the median (i.e. 40 mm) had a longer CAG repeat length compared to men with an AGD >40 mm (P=0.02). In summary, no linear relationship was found between AGD and AR CAG repeat length overall.