CHARGE Syndrome is a condition that - in some cases - may be considered an intersex condition, although many would say it causes intersex conditions rather than being one in of itself. CHARGE syndrome occurs in approximately 1 in 8,500 to 10,000 newborns.
This condition can cause a missing or undescended testicle, a micropenis, and/or hypospadias in CTM/AMAB individuals. In both CTM/AMAB and CTF/AFAB, hypogonadism may occur.
Other symptoms that often occur include a gap or hole in one of the structures of the eye, abnormally small eyes, underdeveloped eyes, narrowed nasal passages, swallowing issues, facial paralysis, a diminished or absent sense of smell, inner ear abnormalities, hearing abnormalities, an unusually shaped ear, and a square faced shape.
Minor/less effective symptoms include heart defects, delayed growth, delayed motor skills, brain abnormalities, and an abnormal connection between the esophagus and the trachea. They may also have speech or learning disabilities.
Less common features include kidney abnormalities, immune system abnormalities, scoliosis, finger or toe abnormalities, an upward turning foot, and longer than usual bones.
Causes
This condition is caused by mutations of the CHD7 gene. The CHD7 gene rovides instructions for making a protein that regulates gene activity, so when it is mutated, ones DNA is less packed than it is supposed to be.
Resources
- https://medlineplus.gov/genetics/condition/charge-syndrome/#inheritance
- https://en.wikipedia.org/wiki/CHARGE_syndrome