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Question 9#

The following are TRUE for Y microdeletions and infertility except:

A. Y deletions are not found in normospermic man
B. Most frequently detected microdeletion is AZFc
C. AZFa microdeletion may cause variable phenotype ranging from azoospermia to oligozoospermia
D. Deletions are extremely rare with sperm concentration >5 million sperms/mL
E. Y-deletion spermatozoa will transmit the deletion to male offspring via in vitro fertilisation (IVF) or intracytoplasmic sperm injection (ICSI)

Correct Answer is C

Comment:

Answer C

Y deletions (Yq11 micro-deletions) were not found in normospermic men and thus have a clear-cut cause effect relationship with spermatogenic failure. The highest frequency is found in azoospermic men (8%–12%) followed by oligospermic (3%–7%) men. Deletions are extremely rare with a sperm concentration >5 millions of spermatozoa/mL. (approximately 0.7%). The most frequently deleted region is AZFc (approximately 65%–70%), followed by deletions of the AZFb and AZFb+c or AZFa+b+c regions (25%–30%) whereas deletions of the AZFa region are extremely rare (5%). The complete removal of the AZFa and AZFb regions is associated with severe testicular phenotype, Sertoli cell-only syndrome and spermatogenic arrest, respectively. The complete removal of the AZFc region causes a variable phenotype which may range from azoospermia to oligozoospermia. Classical AZF deletions do not confer risk for cryptorchidism or testis cancer.