Table 2.
Phenotypes associated with mutations in human LHB, CGB and LHCGR genes*.
| Gene and type of mutation | Sex | Phenotype | Effect on fertility |
|---|---|---|---|
| LHB | |||
| Inactivating | Women | Oligomenorrhea, secondary amenorrhea | Infertile |
| Men | Hypogonadism, Leydig cell hypoplasia, testosterone deficiency, azoospermia | Infertile | |
| Polymorphisms | Women | Endometriosis, hyperprolactinemia, luteal insufficiency, menstrual disorders, PCOS, premature ovarian failure | Reduced fertility |
| Men | Increased prostate cancer risk | Unknown | |
| CGB | |||
| Polymorphism | Women | Recurrent miscarriage | Reduced fertility |
| LHCGR | |||
| Activating | Men | Familial male-limited gonadotropin-independent precocious puberty Leydig cell adenoma | Not affected Reduced fertility |
| Inactivating | Women | Oligomenorrhea/amenorrhea, empty follicle syndrome | Infertile |
| Men | Leydig cell hypoplasia | Infertile | |
| Polymorphism | Women and men | Risk factor for certain cancers | Unknown |
LHB, luteinizing hormone β-polypeptide; CGB, chorionic gonadotropin β-polypeptide; LHCGR, luteinizing hormone/choriogondotropin receptor; PCOS, polycystic ovary syndrome.
*
Sources: references [63–81].