Triple X Syndrome

The triple X syndrome flag.

Triple X Syndrome, also known as 47,XXX or trisomy X, is an intersex variation affecting 1 out of every 1000 individuals assigned female at birth/CTF, causing them to have an extra X chromosome (XXX).

The most common symptom is taller than average height. In some cases they may also have physical characteristics such as widely spaced eyes, epicanthic folds, upslanting palpebral fissures, hyper-extensible joints, radioulnar synostosis, clinodactyly, flat feet, and an abnormally shaped breastbone. Early menopause may occur in some with this variation.

They may sometimes also experience developmental delays in language skills, as well as motor skills, learning disabilities, seizures, and kidney problems, which may classify them as both physically disabled and neurodivergent. Most experience little to no noticeable symptoms, and may go most or all of their life not knowing they have it.

History

Trisomy X syndrome was first described in 1959 by Dr. Patricia Jacobs and colleagues in a 35-year-old woman with normal intellectual abilities and infertility who developed secondary amenorrhea at 19 years of age. Since this first case was described, several hundred cases have been reported with wide phenotypic variability in medical, psychological, and developmental features. Many early descriptions of trisomy X were biased by patients ascertained related to clinical features. Prospective studies of individuals identified by newborn screening and followed into adulthood were much stronger in design; however, the studies are still limited by small sample sizes. Data from newborn screening studies estimate the incidence to be 1/1000 females; however, only around 10% of cases are clinically diagnosed.

Flag

The flag was coined by Pride-Flags on January 22nd of 2017. It has no confirmed meaning.

Resources

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