Differential Diagnosis of Azoospermia in Men with Infertility

Abstract

The differential diagnosis between obstructive and nonobstructive azoospermia is the first step in the clinical management of azoospermic patients with infertility. It includes a detailed medical history and physical examination, semen analysis, hormonal assessment, genetic tests, and imaging studies. A testicular biopsy is reserved for the cases of doubt, mainly in patients whose history, physical examination, and endocrine analysis are inconclusive. The latter should be combined with sperm extraction for possible sperm cryopreservation. We present a detailed analysis on how to make the azoospermia differential diagnosis and discuss three clinical cases where the differential diagnosis was challenging. A coordinated effort involving reproductive urologists/andrologists, geneticists, pathologists, and embryologists will offer the best diagnostic path for men with azoospermia.

Unusual association between testicular tuberculosis and microdeletion of the Y chromosome in an infertile patient with azoospermia

“…It inevitably leads to infertility [ 1 ]. Worldwide, it is estimated that 1% of men of reproductive age and up to 10% of men with infertility are azoospermic [ 2 ]. Azoospermia is classified as obstructive and non-obstructive [ 2 , 3 ].…”

“…This problem affects about 10–15% of married couples, and the male factor is responsible for half of the cases [ 1 ]. Several causes are incriminated such as hormonal abnormalities, infections, genetic disorders, testicular cancer, varicocele, and others [ 2 ]. Testicular tuberculosis is a rare cause of male infertility in underdeveloped countries [ 3 ].…”

“…Testicular tuberculosis is a rare cause of male infertility in underdeveloped countries [ 3 ]. In addition, Y chromosome microdeletions are the most frequent genetic cause of male infertility after Klinefelter's syndrome [ 2 ]. To our knowledge, there are no cases reported in the literature concerning the association between testicular tuberculosis (TB) and microdeletion of the Y chromosome.…”

Construction and external validation of a 5-gene random forest model to diagnose non-obstructive azoospermia based on the single-cell RNA sequencing of testicular tissue

“…Removing the obstruction of the vas deferens by microsurgery is the first choice for treatment of OA, while intracytoplasmic sperm injection (ICSI) and testicular sperm extraction (TESE) are more recommended for NOA [ 6 ]. Hence, the differential diagnosis of OA and NOA is of great significance because it is directly related to the choice of treatment methods [ 7 ].…”

Update on the Management of Non-Obstructive Azoospermia: Current Evidence and Unmet Needs

“…Sperm retrieval is successful in no more than 58% of men with NOA, provided that the most effective surgical technique, namely, microdissection testicular sperm extraction (mTESE), is used [ 3 ]. In the first article of the present Special Issue, Danilo L. Andrade, Marina C. Viana and Sandro C. Esteves showed that the differential diagnosis between OA and NOA may be effectively accomplished in most patients by means of a standardized male infertility workup, which should include a detailed medical history, a careful physical examination with a focus on secondary sexual characteristics, a semen analysis obtained on at least two occasions and assessed according to the World Health Organization, hormonal evaluation (serum FSH, LH, prolactin and testosterone levels), genetic tests (karyotype and Y chromosome microdeletion analysis, screening for cystic fibrosis transmembrane conductance regulator gene mutations), and a scrotal and transrectal ultrasound, with testis biopsy being reserved only for the cases of doubt [ 4 ].…”