Turner's Syndrome

Female phenotype

As said before, this characteristic condition is caused by the absence of a Y chromosome.

It has been proven that patients with Turner’s syndrome may have:

• a short neck with a webbed appearance
• a low hairline at the back of the neck
• low-set ears
• swollen or puffy hands and feet at birth
• soft nails that turn upward at the ends when they are older
• multiple pigmented nevi (colored spots on the skin)
• obstruction of the lymphatic system during fetal development

Short stature

In most cases, weight and height at birth are below the normal values. A reduced growth rate is usually seen just prior to teenage years. Many individuals with Turner's syndrome are treated with recombinant human growth hormone to alleviate short stature, and this method has shown great potential.

Sexual infantilism

This characteristic is caused by rudimentary ovaries. Sexual ducts and external genital structures appear like in normal females, but very immature. When examined at birth, the gonads are long, pale streaks of tissue devoid of primordial follicles. Early in gestation the gonads appear normal and contain primordial germ cells, but after the third month, numbers become severely reduced and, in most patients oocytes are not present after birth. 

A variety of Somatic abnormalities

Frequently observed abnormalities include:

• Congenital heart disease, including cardiac valve malformations and narrowing of the aorta
• Hypothyroidism, due to inadequate secretion of thyroid hormones
• Skeletal abnormalities leading to dislocations of the patella, scoliosis and chronic knee pain

Kidney problems 

Kidney problems are present in approximately 1/3 of individuals with Turner’s. These problems may contribute to high blood pressure.

Three types of kidney problems have been reported:

1. a single horseshoe-shaped kidney, instead of two distinct, bean-shaped structures
2. an abnormal urine collecting system
3. an abnormal artery supply to the kidneys

Osteoporosis

There is a high incidence of osteoporosis in Turner’s patients. This is a condition characterized by thin or weak bones, which can lead to loss of height, curvature of the spine and increased bone fractures. The primary cause of osteoporosis in individuals with Turner’s appears to be inadequate circulating estrogen in the body. 

Intelligence

Normal intelligence is a common characteristic in individuals with Turner's syndrome, but a majority have some type of learning disability, often involving visual-spatial skills.

Clinical Abnormalities and Approximate Incidence

Short Stature	100%
Ovarian Failure	90%
Puffy hands and feet	80%
Broad chest	80%
Low posterior hairline	80%
Unusual shape and rotation of ears	80%
Small lower jaw	70%
Inner canthal folds	70%
Arms turned out slightly at elbows	70%
Soft upturned nails	70%
Kidney anomalies	60%
Shortened 4th digit	50%
Webbed neck	50%
Pigmented nevi (small brown moles)	50%
Cardiac anomalies	50%
Hearing loss	50%
Narrow, high-arched palate	40%

Premature menopause issue  

Since the X chromosomes dictate female physical characteristics, the missing genes interfere with sexual development. The worst possible complication is infertility, caused by the failure of the ovaries to grow properly. A great majority of patients undergoes a premature menopause at that point. There may be some eggs present at birth but these degenerate soon after. Unfortunately, only about 5 to 10 percent of girls with Turner’s syndrome menstruate naturally; all the rest need hormone replacement therapy.