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

Three-people IVF debate process on the move in UK

Takes two to make a child, correct? No. maybe. The use of sperm and eggs from three people to create babies moved a step closer in the UK, with Tuesday's events. What kind of egg-sperm distribution are we talking about? The ...

Study reveals nervous system's role in asthma attacks

(Medical Xpress)—Asthma is a debilitating condition that kills 250,000 people around the world each year. People with asthma have hyperreactive airways and thickened lung walls obstructed with mucus. During ...