Table 1 The chromosome aberrations related to testicular male infertility: from the first observation to the report
From: The evolving role of genetic tests in reproductive medicine
Indications for genetic test | Genetic condition | Frequency | Test | Chromosome/genetic alterations | ART | Inheritance | Antenatal test | Differential diagnosis | Refs. |
|---|---|---|---|---|---|---|---|---|---|
Azoospermia/oligozoospermia; Sertoli cell syndrome type I and type II (presence of some tubules with normal spermatogenesis) and hypospermatogenesis diagnosis by histological evaluation | Microdeletion Y chromosome AZFc | 1/2.500; (AZFc 60%, AZFb 15%, AZFb-c 22%, AZFa 3%); 13% of azoospermia cases; 3–7% of oligozoospermia cases | Molecular diagnosis by PCR of STS sequences | Interstitial deletion of AZFc Y region (recombination between palindromes b2 and b4); DAZ, BPY2, PRY2, CDY1 | ✓: testicular sperm retrieval + ICSI | Y linked | ✓ | Other causes of azoospermia or oligozoospermia | [10] |
Azoospermia; spermatogenesis arrest by histological evaluation | Microdeletion Y chromosome AZFb | Interstitial deletion of AZFb Y region (deletions P5/proximal-P1); RBMY, CDY, HSFY, PRY | |||||||
Azoospermia | Microdeletion Y chromosome AZFb-c | Combined deletion AZFb + AZFc (P5/distal-P1 or P4/distal-P1) | ✓: donor | NA | NA | ||||
Azoospermia; Sertoli cell syndrome type I diagnosis by histological evaluation (i.e., complete absence of germ cells in seminiferous tubules) | Microdeletion Y chromosome AZFa | Deletion of AZFa Y (recombination between HERV15yq1 and HERV15yq2) |