Azoospermia

Definition:

Azoospermia is a disorder in which there is a complete absence of sperm in the semen. It is classified as obstructive azoospermia caused by problems with sperm transport and nonobstructive azoospermia caused by failure of spermatogenesis. Y-linked gene USP9Y has been implicated in moderate oligoasthenoteratozoospermia and azoospermia. SYCP3 mutations lead to complete infertility due to meiotic arrest.

References:

[1]. Alice Luddi, et al. Spermatogenesis in a man with complete deletion of USP9Y. N Engl J Med. 2009 Feb 26;360(9):881-5. [Content Brief]

[2]. Chris Tyler-Smith, et al. The will-o'-the-wisp of genetics--hunting for the azoospermia factor gene. N Engl J Med. 2009 Feb 26;360(9):925-7. [Content Brief]

[3]. Hasbaira Bolor, et al. Mutations of the SYCP3 gene in women with recurrent pregnancy loss. Am J Hum Genet. 2009 Jan;84(1):14-20. [Content Brief]

[4]. Joo Yeon Lee, et al. Role of genetics in azoospermia. Urology. 2011 Mar;77(3):598-601. [Content Brief]

[5]. Toshinobu Miyamoto, et al. Azoospermia in patients heterozygous for a mutation in SYCP3. Lancet. 2003 Nov 22;362(9397):1714-9. [Content Brief]

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