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Table 5 The genetic causes related to posttesticular male infertility: from the first observation to the report

From: The evolving role of genetic tests in reproductive medicine

Main indications for genetic test Obstructive azoospermia or severe oligospermia ART Inheritance Antenatal test Differential diagnosis Refs.
Genetic disorder Frequency Genetic test Genetic alteration
Abnormalities of seminal vesicles or absence of vas deferens; normal testicular development and function; normal spermatogenesis; a low volume of ejaculated semen with a specific profile (volume < 1.5 ml, ph < 7.0, elevated citric acid concentration, elevated acid phosphatase concentration, low fructose concentration, and failure to coagulate) Congenital bilateral absence of the vas deferens (CBAVD) 25%; 1–2% in infertility Screening for CFTR mutations Two CFTR pathogenic variants identified (46%); one CFTR pathogenic variant identified (79%) ICSI AR Young syndrome; Hereditary urogenital dysplasia [83,84,85]
Multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands; obstructive azoospermia and male infertility Cystic fibrosis 1:3200; CF occurs with lower frequency in other ethnic and racial populations (1:15,000 African Americans, and 1:31,000 Asian Americans) Screening for CFTR mutations Two CFTR pathogenic variants identified ICSI AR Asthma; congenital airway anomalies; primary ciliary dyskinesia; Shwachman–Diamond syndrome; Bronchiectasis with or without elevated sweat chloride; Isolated hyperchlorhidrosis; Congenital bilateral absence of the vas deferens (CBAVD) [84, 86]
  1. Database sources: NIH, OMIM and OrphaNet
  2. , yes; ✗, no; NA, not applicable; ICSI, intracytoplasmic sperm injection