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Human male infertility and its genetic causes

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...

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Autores principales: Miyamoto, Toshinobu, Minase, Gaku, Shin, Takeshi, Ueda, Hiroto, Okada, Hiroshi, Sengoku, Kazuo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5661822/
https://www.ncbi.nlm.nih.gov/pubmed/29259455
http://dx.doi.org/10.1002/rmb2.12017
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author Miyamoto, Toshinobu
Minase, Gaku
Shin, Takeshi
Ueda, Hiroto
Okada, Hiroshi
Sengoku, Kazuo
author_facet Miyamoto, Toshinobu
Minase, Gaku
Shin, Takeshi
Ueda, Hiroto
Okada, Hiroshi
Sengoku, Kazuo
author_sort Miyamoto, Toshinobu
collection PubMed
description 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 SYCP3 gene on chromosome 12 (12q23) was identified as causing azoospermia by meiotic arrest through a point mutation. METHODS: We mainly describe the SYCP3 and PLK4 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.
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spelling pubmed-56618222017-12-19 Human male infertility and its genetic causes Miyamoto, Toshinobu Minase, Gaku Shin, Takeshi Ueda, Hiroto Okada, Hiroshi Sengoku, Kazuo Reprod Med Biol Review Articles 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 SYCP3 gene on chromosome 12 (12q23) was identified as causing azoospermia by meiotic arrest through a point mutation. METHODS: We mainly describe the SYCP3 and PLK4 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. John Wiley and Sons Inc. 2017-03-26 /pmc/articles/PMC5661822/ /pubmed/29259455 http://dx.doi.org/10.1002/rmb2.12017 Text en © 2017 The Authors. Reproductive Medicine and Biology published by John Wiley & Sons Australia, Ltd on behalf of Japan Society for Reproductive Medicine. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review Articles
Miyamoto, Toshinobu
Minase, Gaku
Shin, Takeshi
Ueda, Hiroto
Okada, Hiroshi
Sengoku, Kazuo
Human male infertility and its genetic causes
title Human male infertility and its genetic causes
title_full Human male infertility and its genetic causes
title_fullStr Human male infertility and its genetic causes
title_full_unstemmed Human male infertility and its genetic causes
title_short Human male infertility and its genetic causes
title_sort human male infertility and its genetic causes
topic Review Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5661822/
https://www.ncbi.nlm.nih.gov/pubmed/29259455
http://dx.doi.org/10.1002/rmb2.12017
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