Open AccessHuman male infertility and its genetic causes
Author(s) -
Miyamoto Toshinobu,
Minase Gaku,
Shin Takeshi,
Ueda Hiroto,
Okada Hiroshi,
Sengoku Kazuo
Publication year - 2017
Publication title -
reproductive medicine and biology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.005
H-Index - 22
eISSN - 1447-0578
pISSN - 1445-5781
DOI - 10.1002/rmb2.12017
Subject(s) - azoospermia , male infertility , y chromosome , infertility , azoospermia factor , y chromosome microdeletion , genetics , chromosome , gene , biology , intracytoplasmic sperm injection , andrology , medicine , pregnancy
Background Infertility affects about 15% of couples who wish to have children and half of these cases are associated with male factors. Genetic causes of azoospermia include chromosomal abnormalities, Y chromosome microdeletions, and specific mutations/deletions of several Y chromosome genes. Many researchers have analyzed genes in the AZF region on the Y chromosome; however, in 2003 the SYCP 3 gene on chromosome 12 (12q23) was identified as causing azoospermia by meiotic arrest through a point mutation. Methods We mainly describe the SYCP 3 and PLK 4 genes that we have studied in our laboratory, and add comments on other genes associated with human male infertility. Results Up to now, The 17 genes causing male infertility by their mutation have been reported in human. Conclusions Infertility caused by nonobstructive azoospermia ( NOA ) is very important in the field of assisted reproductive technology. Even with the aid of chromosomal analysis, ultrasonography of the testis, and detailed endocrinology, only MD ‐ TESE can confirm the presence of immature spermatozoa in the testes. We strongly hope that these studies help clinics avoid ineffective MD ‐ TESE procedures.