Andrologia. 2019;e13272. wileyonlinelibrary.com/journal/and | 1 of 7 https://doi.org/10.1111/and.13272 © 2019 Blackwell Verlag GmbH 1 | INTRODUCTION Involuntary childlessness is a serious problem for the individual cou‐ ple as well as for their families and for the society. As about 10–15% of couples need medical assistance to conceive and up to 5% remain permanently infertile, therefore, infertility also impacts birth rates of a country and provides a challenge to public health services. While infertile women tend to develop psychosomatic disorders and de‐ pression (Al‐Homaidan, 2011), infertile men tend to feel stressed, often producing feelings of guilt and inferiority significantly influ‐ encing their quality of life (Oberpenning, Muthny, & Oberpenning, 2010). However, male infertility has slowly transformed from a man‐ hood problem to a medical issue and men have become willing to un‐ dergo infertility investigations and treatments (Inhorn, 2017; Inhorn & Patrizio, 2015). Traditionally, medical care for the infertile women is well or‐ ganised and gynaecologists treat the infertile women. However, in half of the infertile couples, a problem also exists on the male side, Received: 19 December 2018 | Revised: 18 February 2019 | Accepted: 26 February 2019 DOI: 10.1111/and.13272 ORIGINAL ARTICLE Genetic investigations on causes of male infertility in Western Saudi Arabia Mohd A. Beg 1,2,3 | Eberhard Nieschlag 3,4 | Taha A. Abdel‐Meguid 5,6 | Qamre Alam 1 | Ahmed Abdelsalam 5,7 | Absarul Haque 1 | Hisham A. Mosli 5 | Osama S. Bajouh 8 | Adel M. Abuzenadah 1,2,3 | Mohammed Al‐Qahtani 3 1 King Fahd Medical Research Center, King Abdulaziz University, Jeddah, Saudi Arabia 2 Center of Innovation in Personalized Medicine, King Abdulaziz University, Jeddah, Saudi Arabia 3 Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia 4 Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany 5 Department of Urology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia 6 Minia University, El‐Minia, Egypt 7 Department of Urology, Theodor Bilharz Research Institute, Giza, Egypt 8 Department of Obstetrics and Gynecology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia Correspondence Eberhard Nieschlag, Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany. Email: Eberhard.Nieschlag@ukmuenster.de Funding information Deanship of Scientific Research (DSR), King Abdulaziz University, Jeddah, Saudi Arabia, Grant/Award Number: Grant no. (9‐117‐143/ HiCi) Abstract In recent years, genetic studies have yielded great progress in elucidating causes of male infertility. This investigation aims to identify frequent genetic abnormalities, that is, sex chromosome aneuploidies and Y‐chromosome microdeletions among in‐ fertile men in Western Saudi Arabia. From a population of infertile patients, 88 male patients with either azoospermia or severe oligozoospermia (sperm concentration <5 million/ml) were selected. In addition to a thorough clinical workup, karyotypes and Y‐chromosomal microdeletions were investigated. Among those 88 infertile pa‐ tients, we detected six patients with Klinefelter syndrome, two with 47 XYY syn‐ drome and two with Y‐chromosome microdeletions AZFb,c. While the prevalence of sex chromosome aneuploidies was in the range of globally investigated populations, the microdeletions appeared to be less frequent in Western Saudi Arabia compared to other regions of the world. All genetically abnormal cases showed sperm concen‐ tration <1 million/ml, and hence, this appears to be the threshold for warranting ge‐ netic investigations in Western Saudi Arabia. Since Klinefelter and 47 XYY syndromes were only discovered late in life, upon an infertility investigation, sex chromosome aneuploidies due to their many‐fold comorbidities require earlier medical attention. A neonatal screening programme is suggested for detection of these aneuploidies in Saudi Arabia for the general health benefit of these patients. KEYWORDS genetics, Klinefelter syndrome, male infertility, Saudi Arabia, Y‐chromosome microdeletions