Table I.
Numbers of genes that are at least moderately linked to male infertility or abnormal genitourinary development phenotypes.
| Description | AR | AD | XL | YL | Total |
|---|---|---|---|---|---|
| Isolated infertility | 27 | 5 | 4 | 0 | 36 |
| Acephalic sperm | 3 | 0 | 0 | 0 | 3 |
| Globozoospermia | 1 | 0 | 0 | 0 | 1 |
| Macrozoospermia | 1 | 0 | 0 | 0 | 1 |
| Multiple morphological abnormalities of the sperm flagella | 13 | 1 | 0 | 0 | 14 |
| Non-obstructive azoospermia or oligozoospermia | 7 | 4 | 3 | 0 | 14 |
| Congenital bilateral absence of the vas deferens | 1 | 0 | 1 | 0 | 2 |
| Fertilisation failure | 1 | 0 | 0 | 0 | 1 |
| Syndromic infertility | 13 | 3 | 1 | 0 | 17 |
| Primary ciliary dyskinesia | 7 | 0 | 1 | 0 | 8 |
| Other syndromes | 6 | 3 | 0 | 0 | 9 |
| Endocrine disorder/Reproductive system syndrome | 28 | 30 | 7 | 2 | 67 |
| Disorders of sexual development | 14 | 13 | 4 | 2 | 33 |
| Hypogonadotropic hypogonadism* | 14 | 17 | 3 | 0 | 34 |
AR, autosomal recessive; AD, autosomal dominant; XL, X-linked; YL, Y-linked.
*
We note that recent studies are identifying digenic/oligogenic causes for hypogonadotropic hypogonadism presentations.