THIRD EDITION
Factsheet
Condition:
Y chromosome infertility
Inheritance:
Y-linked
Genetic Etiology:
Deletion of one or more genetic regions on the Y chromosome, designed AZFa, AZFb, AZFc. Genes include DAZ1, DDX3Y, RBMY1A1, and USP9Y.
Frequency:
1/2,000–1/3,000
Clinical features:
Affected males have azoospermia or oliogospermia. Some may have small testes or cryptorchism.
Management:
In vitro fertilization may be possible using intracytoplasmic sperm injection (ICSI) using sperm extracted from the testes.
Genetic counseling:
Transmission is via the Y chromosome, which is important to recognize if a male is conceived from an affected father by ICSI. Genetic testing is available.