Turner syndrome is a sex chromosome abnormality that involves the absence of one of the X chromosomes. Most girls who have Turner syndrome have one X chromosome missing from all cells.
Turner syndrome is often recognizable at birth if the following are present:
- a webbed neck
- low posterior hairline
- widely spaced nipples
- edema of the hands and feet
Turner syndrome can also be diagnozed at puberty by the presence of these three features:
- short stature
- sexual infantilism (delayed or arrested development of sexual organs i.e., delayed puberty or absent puberty)
- amenorrhea (the absence of a menstrual period in a woman of reproductive age)
Girls with this disorder are generally infertile and may also have difficulty with peer relations and social cues, as well as behavioral problems.
Diagnosis of Turner syndrome is based on a negative sex chromatin test.
Therapy constitutes primarily of hormone treatment and psychological counseling for both child and parents.
The syndrome is named after Henry Turner, an Oklahoma endocrinologist, who described it in 1938. In Europe, it is often called Ullrich-Turner syndrome or even Bonnevie-Ullrich-Turner syndrome to acknowledge that earlier cases had also been described by European doctors.