What is Turner syndrome and its symptoms?

Features of Turner syndrome may include a short neck with a webbed appearance, low hairline at the back of the neck, low-set ears, hands and feet that are swollen or puffy at birth, and soft nails that turn upward. Stature. Girls with Turner syndrome grow more slowly than other children.

How Turner syndrome is caused?

Turner syndrome is caused by partial or complete loss (monosomy) of the second sex chromosome. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual and they come in pairs. We receive one copy from each parent.

What are the four symptoms of Turner syndrome?

Signs of Turner syndrome at birth or during infancy may include:

• Wide or weblike neck.
• Low-set ears.
• Broad chest with widely spaced nipples.
• High, narrow roof of the mouth (palate)
• Arms that turn outward at the elbows.
• Fingernails and toenails that are narrow and turned upward.

What hormone causes Turner syndrome?

As a chromosomal disorder, Turner syndrome is present at conception or following the first cell division and remains throughout life. Gonadotropin levels, particularly follicle-stimulating hormone (FSH) levels, may be elevated at birth, although not reliably enough for use in neonatal screening.

What is Parsonage Turner Syndrome?

General Discussion. Summary. Parsonage-Turner syndrome (PTS) is an uncommon neurological disorder characterized by rapid onset of severe pain in the shoulder and arm. This acute phase may last for a few hours to a few weeks and is followed by wasting and weakness of the muscles (amyotrophy) in the affected areas.

Is Turner syndrome caused by Nondisjunction?

Turner syndrome (TS) is a complex phenotype associated with complete or partial monosomy of the X chromosome, usually the result of a sporadic chromosomal nondisjunction. TS is one of the most common sex chromosome abnormalities, affecting approximately 1 in 2,000 live born females [1–3].

Is Turner syndrome caused by aneuploidy?

Sex chromosome aneuploidies, in mosaic and nonmosaic forms, result in recognizable syndromes such as Turner syndrome (45,X and associated karyotypes) and Klinefelter syndrome (47,XXY). Sex chromosome DSD are defined by aneuploidy of the sex chromosomes, X and Y.

Where does Nondisjunction occur in Turner syndrome?

Nondisjunction may occur during meiosis I or meiosis II. Aneuploidy often results in serious problems such as Turner syndrome, a monosomy in which females may contain all or part of an X chromosome. Monosomy for autosomes is usually lethal in humans and other animals.

What endocrine gland is affected by Turner syndrome?

Though most people today refer to the condition as Turner syndrome or TS, your doctor may call it gonadal dysgenesis. This is because one of the defining characteristics of TS is that it affects the ovaries—the primary female gonads or sex glands.

What does Parsonage Turner syndrome feel like?

Parsonage Turner syndrome is usually characterized by the sudden onset of severe pain in the shoulder and upper arm, which is often described as sharp, aching, burning, stabbing, or throbbing. In some cases, the pain may extend to the neck, lower arm and/or hand on the affected side.

What nerve is affected in Parsonage Turner Syndrome?

This acute phase may last for a few hours to a few weeks and is followed by wasting and weakness of the muscles (amyotrophy) in the affected areas. PTS involves mainly the brachial plexus, the networks of nerves that extend from the spine through the neck, into each armpit and down the arms.