top-banner

Genetic causes of infertility

Genetic causes of infertility

According to the World Health Organization (WHO), ‘infertility is a disease of the reproductive system, defined by the failure to achieve a clinical pregnancy after 12 months or more of regular, unprotected sexual intercourse’ [1]. Worldwide, the number of people affected by infertility is over 48.5 million people [2]. 1 in 8 couples in the US and 1 in 7 couples in the UK face infertility [3, 4]. In developing countries, infertility rate is even higher, with 1 in 4 couples being affected [5].

A couple with a normal functioning reproductive system has a 20-25% chance of conceiving at any given month [6]. After 6 months of trying, 60% of those couples will conceive without medical assistance [6].

Infertility affects both men and women equally. Approximately 30% of infertility is due to female factors and 30% due to male factors. The remaining cases are due to problems in both partners, or have an unexplained etiology [7]. The most important contributing factor for infertility is maternal age. Paternal age plays a role, but not as central. As women are born with all their eggs, their quantity and quality decreases overtime. Consequently, it is harder for women who are older to conceive and carry a pregnancy to term. In general, guidelines recommend seeing a fertility specialist after 12 months of unsuccessful trying; however, women over the age of 35 are advised to consult a specialist after 6 months – and not wait for a year.

Causes of infertility

Causes of infertility can vary, and a personal, thorough clinical examination and family history must be taken by a specialist. Infertility can have genetic, hormonal or structural causes, and the cause may also be unknown or unexplained.

Genetic causes of infertility

Genetic causes include translocations (incorrect rearrangement of chromosomes) and other structural or numerical chromosome changes in one of the partners.

Genetic causes of infertility in women

Both polycystic ovarian syndrome and endometriosis are multifactorial disorders with a probable genetic component, and both are causes of infertility in women [8]. Some other genetic causes of female infertility are listed below [9].

Genetic causes of infertility in men

Klinefelter syndrome, caused by the presence of an extra X chromosome, is the most common cause of male infertility. Some other genetic causes of male infertility are listed below [9].

Other causes of infertility

Hormonal levels, caused by ovulatory disorders, poor response to fertility treatments, premature ovarian failure or polycystic ovarian syndrome and health conditions including endometriosis can also cause infertility.

Structural problems of the uterus, cervical factors or issues with the sperm production or transportation to the egg, immune disorders, and environmental factors can all affect fertility. Infertility can also occur after having a baby without difficulty, and sometimes, infertility is unexplained.

The personal side of infertility

Couples or people who know they might be affected by infertility, if they have experienced multiple miscarriages or have known risk factors for infertility, like endometriosis, may also consult their doctor and seek an expert’s opinion as early as they wish. Couples have a right to advocate for themselves, seek treatment, explore their options – fertility treatments, surrogacy, and adoption – and take their own decisions for their families, even if these decisions are taking no actions at all.

The perceived stigma surrounding infertility often prevents people from talking about, or admitting, their fertility challenges. The desire to have children and the inability to accept infertility as a disease of the reproductive system does not only feel like a biological fail, but a personal one. Infertility is unlike other medical conditions with defined pathways and mechanisms of action. Treatment might need to be emotional as well as physical, and above all, personal. As friends, family or society, all we can do is to provide emotional support, promote discussion and understanding in a way that enables better policies and more affordable and accessible fertility treatments on this global public health issue.

Advocacy

The US National Infertility Awareness Week (NIAW), founded in 1989 by Resolve, recently celebrated 30 years. Resolve’s aims are to enhance public understanding on infertility, ensure couples wishing to start a family know the guidelines, and educate lawmakers on the impact of infertility policies. These empower Resolve’s purpose, which is to eliminate the barriers and the stigmas that stand in the way of building families.

For more information on support groups, please visit: https://fertilitynetworkuk.org/access-support/https://infertilityawareness.org/, or https://resolve.org/.

Find out more about the role of genetics in reproductive health here and azoospermia in our article, Understanding azoospermia, one of the most common causes of male infertility, here.

References

[1] Zegers-Hochschild F. et al. (2009) International Committee for Monitoring Assisted Reproductive Technology (ICMART) and the World Health Organization (WHO) revised glossary of ART terminology, 2009 https://www.fertstert.org/article/S0015-0282(09)03688-7/fulltext

[2] Mascarenhas M. et al. (2012) ‘National, regional and global trends in Infertility prevalence since 1990: A systematic analysis of 277 health surveys’. PLoS Medicine; 9:e1001356. https://journals.plos.org/plosmedicine/article?id=10.1371/journal.pmed.1001356

[3] 2006-2010 National Survey of Family Growth, CDC (2017) https://www.cdc.gov/nchs/nsfg/key_statistics/i.htm#infertility

[4] National Institute for Health and Clinical Excellence, Manchester (2013) Fertility: Assessment and Treatment for People with Fertility Problems. NICE Clinical Guideline. https://www.nice.org.uk/guidance/cg156

[5] World Health Organization, Sexual and Reproductive Health (2019) https://www.who.int/reproductivehealth/topics/infertility/burden/en/

[6] Resolve (2019) https://resolve.org/infertility-101/what-is-infertility/fast-facts/

[7] American Society for Reproductive Medicine, Reproductive Facts, (2019) https://www.reproductivefacts.org/faqs/frequently-asked-questions-about-infertility/

[8] How Much of Infertility Is Genetic? Healthline. Retrieved 25 May 2023 from https://www.healthline.com/health/womens-health/is-infertility-genetic#in-females

[9] Zorrilla M, Yatsenko AN. The Genetics of Infertility: Current Status of the Field. Curr Genet Med Rep. 2013 1(4):10.1007/s40142-013-0027-1. doi: 10.1007/s40142-013-0027-1. PMID: 24416713; PMCID: PMC3885174. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885174

Related articles

Mapping human brain development: Insights into neural differentiation and disease risk

The human brain develops through a complex series of events, with genes carefully regulating the formation of neurons and glial cells. A re..

The diagnostic odyssey: The search for answers for rare diseases

Rare diseases affect between 300 and 400 million people worldwide – more than cancer and AIDS combined [1, 2], but despite this, many peo..

Rosalind Franklin: In celebration of International Day of Women & Girls in Science (February 11)

Rosalind Elsie Franklin was a brilliant and meticulous research scientist whose interdisciplinary work made fundamental contributions to va..

Related articles

Mapping human brain development: Insights into neural differentiation and disease risk

The human brain develops through a complex series of events, with genes carefully regulating the formation of neurons and glial cells. A re..

The diagnostic odyssey: The search for answers for rare diseases

Rare diseases affect between 300 and 400 million people worldwide – more than cancer and AIDS combined [1, 2], but despite this, many peo..

Rosalind Franklin: In celebration of International Day of Women & Girls in Science (February 11)

Rosalind Elsie Franklin was a brilliant and meticulous research scientist whose interdisciplinary work made fundamental contributions to va..

Latest articles

Carrier screening: A comprehensive guide to genetic health and reproductive planning

Carrier screening is a genetic test designed to identify whether an individual carries a gene with changes (mutations) associated with inhe..

Trisomy awareness month: Understanding trisomy 13

Trisomy 13, also known as Patau syndrome, is a genetic condition in which cells in the body have three copies of chromosome 13 instead of t..

Mapping human brain development: Insights into neural differentiation and disease risk

The human brain develops through a complex series of events, with genes carefully regulating the formation of neurons and glial cells. A re..

Latest articles

Carrier screening: A comprehensive guide to genetic health and reproductive planning

Carrier screening is a genetic test designed to identify whether an individual carries a gene with changes (mutations) associated with inhe..

Trisomy awareness month: Understanding trisomy 13

Trisomy 13, also known as Patau syndrome, is a genetic condition in which cells in the body have three copies of chromosome 13 instead of t..

Mapping human brain development: Insights into neural differentiation and disease risk

The human brain develops through a complex series of events, with genes carefully regulating the formation of neurons and glial cells. A re..

RELATED PRODUCTS

RODINIA: INFERTILITY TEST

Personalized insight for family planning

AZOOSPERMIA (standard)

Genetic testing for microdeletions in the azoospermia factor (AZF) region of the Y chromosome

AMFIRA PGT

Preimplantation genetic test for chromosome assessment

OUR NETWORK