Turner Syndrome

Turner syndrome or Ullrich-Turner syndrome (also known as "Gonadal dysgenesis":550) encompasses several conditions in human females, of which monosomy X (absence of an entire sex chromosome, the Barr body) is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent (unaffected humans have 46 chromosomes, of which two are sex chromosomes). Normal females have two X chromosomes, but in Turner syndrome, one of those sex chromosomes is missing or has other abnormalities. In some cases, the chromosome is missing in some cells but not others, a condition referred to as mosaicism or 'Turner mosaicism'.

Occurring in 1 in 2000 – 1 in 5000 phenotypic females, the syndrome manifests itself in a number of ways. There are characteristic physical abnormalities, such as short stature, swelling, broad chest, low hairline, low-set ears, and webbed necks. Girls with Turner syndrome typically experience gonadal dysfunction (non-working ovaries), which results in amenorrhea (absence of menstrual cycle) and sterility. Concurrent health concerns are also frequently present, including congenital heart disease, hypothyroidism (reduced hormone secretion by the thyroid), diabetes, vision problems, hearing concerns, and many autoimmune diseases. Finally, a specific pattern of cognitive deficits is often observed, with particular difficulties in visuospatial, mathematical, and memory areas.

Turner's syndrome is named after Henry H. Turner.

This text uses material from Wikipedia licensed under CC BY-SA

Latest Spotlight News

Subconscious learning shapes pain responses

In a new study led from Sweden's Karolinska Institutet, researchers report that people can be conditioned to associate images with particular pain responses – such as improved tolerance to pain – even ...

All sounds made equal in melancholy

The room is loud with chatter. Glasses clink. Soft music, perhaps light jazz or strings, fills the air. Amidst all of these background sounds, it can be difficult to understand what an adjacent person is ...

Faster heart rate linked to diabetes risk

An association between resting heart rate and diabetes suggests that heart rate measures could identify individuals with a higher future risk of diabetes, according to an international team of researchers.

Vortex device makes for better cancer treatments

A South Australian invention, responsible for unboiling an egg, has been used to produce a four-fold increase in efficacy of carboplatin, a commonly used drug for ovarian, lung and other cancer. ...