Recognised genetic causes of male infertility in North-east Scotland
Research type
Research Study
Full title
What proportion of male infertility in NE Scotland is attributable to known genetic causes?
IRAS ID
224855
Contact name
Zosia Miedzybrodzka
Contact email
Sponsor organisation
University of Aberdeen
Duration of Study in the UK
0 years, 6 months, 29 days
Research summary
Infertility is defined as the failure to conceive after one year of unprotected intercourse. It affects one in seven couples,approximately 3.5 million people in the UK. Male infertility accounts for up to 30% of couple infertility and 1% of British males don't produce sperm.
The contribution of genetics to infertility is well established and genetic testing is standard practice in clinical assessment of males who have poor sperm quality, including very low sperm count(severe oligozoospermia) and complete absence of sperm in the semen (azoospermia). Seminal analysis results have been recorded for almost three decades at Aberdeen Fertility Centre, and some of these patients have undergone genetic studies. Large scale population based data on the rate of chromosomal abnormalities in infertile men is absent from the literature, especially with respect to Y chromosome microdeletion or the clinical conditions associated to poor sperm quality.
Here we seek to utilize routine clinical data from patients with poor sperm quality referred for genetic testing to Aberdeen Genetics Laboratory to generate an anonymised research dataset that contains data on results of genetic test, including karyotype, CFTR and Y chromosome deletion testing, indications for referral and associated clinical data.
This project will provide a comprehensive review of male infertility at the North of Scotland during the last 30 years, documenting the contribution of genetic causes to male infertility. This knowledge will be used to inform guideline development to improve future infertility care.REC name
West of Scotland REC 4
REC reference
17/WS/0248
Date of REC Opinion
23 Nov 2017
REC opinion
Favourable Opinion