Infertility is a major public health issue. According to World Health Organisation (WHO), it affects 17.5% of adult population, or about one in six people. Couple infertility is defined as the inability of a sexually active couple without contraception to achieve pregnancy within one year. Male factor contributes to about 50% of the causes, and may be isolated or associated with a female cause. Assessment of the male is essential in etiological and therapeutic approach to infertile couple [1]. The causes of male infertility include morphological abnormalities of spermatozoa (teratozoospermia) or a combination of several abnormalities [2]. Teratozoospermia is characterised by presence of spermatozoa with an abnormal morphology in more than 85% and can be divided into two categories, polymorphic teratozoospermia and monomorphic teratozoospermia. Two forms of monomorphic teratozoospermia are known, macrozoospermia and globozoospermia [3].

Globozoospermia is a rare but serious teratozoospermia, characterised by ejaculates consisting entirely of round-headed spermatozoa without acrosomes (type I also known as total or classic globozoospermia) or, in the case of partial globozoospermia (type II), containing a variable proportion (20–90%) of spermatozoa without acrosomes [4, 5]. Men with total globozoospermia are infertile, and even the use of intracytoplasmic sperm injection (ICSI) has been associated with disappointing success rates [6]. Some evidence indicated an accumulation of globozoospermia in certain families, suggesting a genetic origin for this condition [6,7,8,9]. Initially, pathogenic variants in three genes, namely spermatogenesis-associated 16 (SPATA16), a protein interacting with C kinase 1 (PICK1) and DPY-19-like 2 (DPY19L2), were identified as the main genetic causes of globozoospermia [10, 11]. More recently, pathogenic variants in other genes (such as C2CD6, C7orf61, CCDC62, CCIN, DNAH17, GGN, SPACA1, and ZPBP1) have all been described in patients with globozoospermia, but only a handful of patients with variants in any of these genes have been described [12,13,14,15,16,17,18,19]. To date, the most common genetic causes of human type I globozoospermia are alterations in the DPY19L2 gene, which are found in around two-thirds of patients with globozoospermia [17, 20]. However, there is little or no genetic data available on globozoospermia in sub-Saharan Africa, particularly in Senegal. The aim of our study was to investigate genetic causes of two patients with globozoospermia received at medical biology laboratory of Pasteur Institute of Dakar.