Germ cell malignancy risk, once thought to be relatively high, is now thought to be approximately 2%. Wolffian structures (the epididymides, vasa deferentia, and seminal vesicles) are typically absent, but will develop at least partially in approximately 30% of cases, depending on which mutation is causing the CAIS. The prostate, like the external male genitalia, cannot masculinize in the absence of androgen receptor function, and thus remains in the female form.The Müllerian system (the fallopian tubes, uterus, and upper portion of the vagina) typically regresses due to the presence of anti-Müllerian hormone originating from the Sertoli cells of the testes. These women are thus born without fallopian tubes, a cervix, or a uterus, and the vagina ends "blindly" in a pouch. Müllerian regression does not fully complete in approximately one third of all cases, resulting in Müllerian "remnants". Although rare, a few cases of women with CAIS and fully developed Müllerian structures have been reported. In one exceptional case, a 22-year-old with CAIS was found to have a normal cervix, uterus, and fallopian tubes. In an unrelated case, a fully developed uterus was found in a 22-year-old adult with CAIS.Other subtle differences that have been reported include slightly longer limbs and larger hands and feet due to a proportionally greater stature than unaffected women, larger teeth, minimal or no acne, well developed breasts, and a greater incidence of meibomian gland dysfunction (i.e. dry eye syndromes and light sensitivity). Endocrine
Hormone levels have been reported in gonadally intact CAIS women in a number of studies.
Other effects can include gradual loss of finger extension, leading to a clawlike appearance. Cold & hot temperatures exacerbate MMN symptoms to such an extent, unlike other neuropathies, that this temperature response is being investigated as a diagnostic tool. Cause
MMN is thought to be caused by alterations in the immune system, such that certain proteins (antibodies) that would normally protect one from viruses and bacteria begin to attack constituents of peripheral nerves. Antibodies may be directed against "GM-1", a ganglioside found at the Nodes of Ranvier. These antibodies have been detected in at least one-third of MMN patients. More recent studies also suggest that newer tests for antibodies directed against GM-1, as well as a number of related gangliosides, are positive in over 80% of MMN patients. There are increasing reasons to believe these antibodies are the cause of MMN. Diagnosis
The diagnosis of MMN depends on demonstrating that a patient has a purely motor disorder affecting individual nerves, that there are no upper motor neuron (UMN) signs, that there are no sensory deficits, and that there is evidence of conduction block.