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Turner Syndrome

Turner Syndrome is named after doctor-endocrinologist Dr. Henry Turner who became famous in 1938 by describing the syndrome first time in medical history. Turner Syndrome affects only females and characterized by complex of symptoms including extra skin on the neck (so called “webbed neck”), puffiness or swelling (lymphedema) of the hands and feet as well as infertility because of an absence of ovarian function.

This syndrome is a very specific genetic condition in which female body does not have the usual pair of two X chromosomes – it occurs in about 1 out of 2,000-2,500 live births and could create physical, emotional and educational disabilities.

Causes

Turner Syndrome

Turner Syndrome

It is well known that all humans have 46 chromosomes – two of these chromosomes (“sex chromosomes”) determine human sex (boy or girl). Females normally have two of the same sex chromosomes (XX) and males have two different chromosomes (XY).

In most cases females with Turner Syndromes have only one X chromosome. But some clients with Turner Syndrome could have two X chromosomes, but one of them is incomplete.

In Turner syndrome, cells are missing all or part of an X chromosome. The condition only occurs in females. Most commonly, the female patient has only one X chromosome. Others may have Sometimes, a female has some cells with two X chromosomes, but other cells have only one. Some specialists believe that this syndrome is caused by an error (defect) either in the father’s sperm or the mother’s ovum (egg). It is also possible that this Syndrome can be a result of mosaicism (so called “Turner mosaicism”) during the early stages of fetal development.

Researchers discovered that about 10% of all miscarriages during the first trimester of pregnancy are caused by Turner Syndrome.

Symptoms

Girls with Turner Syndrome usually are shorter than average. In most cases they have normal height for the first three years of life and after three years parents could notice the slow growth rate. In puberty symptoms of the Turner Syndrome are becoming obvious – girls with this Syndrome do not have the usual growth spurt at puberty.

Most typical symptoms include the following:

  • Amenorrhea (absence of periods – primary amenorrhea);
  • Specific wide neck (so called “webbed neck”) and low/indistinct hairline;
  • Absent or incomplete development at puberty (lack of pubic hair and small not developed breasts);
  • Broad chest and widely spaced nipples;
  • Infertility;
  • Short height;
  • Swollen hands and feet;
  • Vaginal dryness (sometimes painful intercourse).

During mentioned Syndrome some additional symptoms could be noted:

  • Hypothyroidism;
  • Scoliosis (spine deformity);
  • High blood pressure tendency;
  • Osteoporosis (because of a lack of estrogens);
  • Otitis media (middle ear infection);
  • Heart murmur (could be associated with narrow aorta).

Amenorrhea

Non-functioning undeveloped ovaries are very typical. Usually healthy girl’s ovaries start to produce sex hormones (estrogens and progesterone) at puberty. But ovaries of puberty girls with Turner Syndrome do not produce enough sex hormones or don’t produce sex hormones at all and as a result girls with Turner Syndrome do not start their periods (so called “primary amenorrhea”) or develop breasts without hormone treatment at the age of puberty.

In many cases amenorrhea (absence of periods) is becoming the first signal for visiting a doctor.

In spite of amenorrhea, non-functioning ovaries and infertility, women with this syndrome have normal vagina and uterus (but small).

Diagnosis

Diagnosis of the Turner Syndrome is based on above mentioned symptoms, objective body observations and some laboratory tests. Most typical body observations include short stature, lack of the development, webbed neck, a broad chest and widely spaced nipples.

Sometimes girls are diagnosed in early childhood because of slow growth rate and typical body features. In most cases Turner Syndrome is identified at puberty because of primary amenorrhea and lack of puberty development.

The most important test for this disease is blood test for genetic karyotype identification – analysis of the chromosomal composition. This blood test can detect extra or missing chromosomes, chromosomal rearrangements and/or chromosomal breaks.

Ultrasound testing could identify lack of ovarian development and hormonal tests can confirm lack of sex hormones (estrogens and progesterone) – main reason for amenorrhea.

Turner Syndrome

Turner Syndrome

Risk factors & complications

  • It was noted that women with miscarriage and stillborn in anamnesis have higher risk for having babies with Turner Syndrome.
  • Obesity during Turner Syndrome can be considered as a risk factor because combination of both is a risk factor for diabetes type 2.
  • Turner Syndrome is considered as a risk factor for heart diseases – some clients with Turner Syndrome could have congenital heart defects or very slight heart abnormalities which could raise their risk of complications in future life.
  • High blood pressure (hypertension) can be a complication of the Turner Syndrome.
  • About 30% women with this Syndrome have kidney problems (mainly kidney malformations) which can increase the risk of hypertension and urinary tract infections (UTI).
  • Hypothyroidism is a special condition which is considered as a complication of the Turner Syndrome. Only some of clients with this Syndrome have hypothyroidism.
  • Lack of estrogens is a main cause of osteoporosis in women with Turner Syndrome. Sometimes women with this Syndrome can have problems with the curvature of the spine, leading to scoliosis. There is also a risk of kyphosis (forward rounding of the upper back).
  • Vision problems are considered as common for clients with Turner Syndrome – mainly strabismus (eyes to not work in parallel and appear to be looking in different directions) and hyperopia (farsightedness, long-sightedness).

Treatment

Turner syndrome is a genetic condition which does not have complete cure. But several treatments can be used for growing taller, for sexual development and even for infertility. In most cases hormone therapy including estrogens, progesterone and growth hormones are required.

Modern medicine can provide infertility treatment for women with Turner Syndrome – mainly with Assisted Reproductive Technologies (ART) including In-vitro Fertilization (IVF) and/or surrogacy and/or donor eggs.

As blood pressure and dysfunction of thyroid are common conditions during Turner Syndrome, special treatment protocols are developed for such clients.


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