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 | |
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) | |