Men with azoospermia: clinical and laboratory comparison between those with and without Disorders of Sex Development or chromosomal aberration

Abstract

Infertility affects 12% of the male population, and among the main factors are obesity, infections, exposure to chemical factors, smoking and genetic changes. Disorders of Sex Development (DSD) are congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. Klinefelter syndrome is frequently associated with male infertility, but other DSD determine infertility in adulthood; these are often detected early due to genital ambiguity and/or hypogonadism, but mild conditions can reach adulthood without investigation. Clinical and laboratory features are not frequently studied in order to be able to identify conditions associated with DSD or in other etiologies. Therefore, the objective of this study will be to verify if there are clinical and laboratory differences between men with azoospermia diagnosed with DSD or chromosomal aberration in relation to those without DSD or without chromosomal aberration. It will be an observational, cross-sectional and retrospective study based on the analysis of medical records. The sample will include all men with azoospermia with the age between 20 and 40 years. It will be included only man with non-obstructive azoospermia (confirmed by at least two sperm counts). Cases with incomplete clinical and/or laboratory data in the medical record will not be included in the study. The following data will be obtained from medical records: age, family history, education, height, wingspan, body mass index, masculinization score, testicular volume, sperm count, LH, FSH, total testosterone, karyotype and Y microdeletion research. For comparison, the groups will be divided into: with increased FSH and with DSD or chromosomal aberration (positive cases), with increased FSH and without DSD or chromosomal aberration (negative cases), and with normal FSH and without DSD or chromosomal aberration (control group). The data will be analyzed by SPSS version 20.0 using the chi-square (Ç2) or Fisher's exact tests, with significance if p <0.05.