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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)
  1. Database sources: NIH, OMIM and OrphaNet
  2. AZF, azoospermia factor; , yes; ✗, no; NA, not applicable; donor, heterologous fertilization with sperm donor; STS, sequence tagged sites