Turner’s Syndrome

Turner’s Syndrome General Information

Humans have 46 chromosomes that contain the DNA and all of our genes that actually represent the building blocks of the body. Two of these chromosomes, known as sex chromosomes have an important role in our development as a girl or as a boy. As you all know, a normal female karyotype (the totality of chromosomes) is labeled 46/XX, while persons suffering from Turner’s Syndrome are 45/XX.  Males have one X and a Y chromosomes, commonly written as XY. Genetic disorders are probably the most delicate health issues because they cause certain medical conditions that are hard to treat and affect seriously the patient’s quality of life.

Turner’s Syndrome is a common chromosomal condition that affects only females characterized by the absence of the usual pair of two X chromosomes. This disorder has several alternative names, such as: gonadal dysgenesis, Bonnevie-Ullrich syndrome and monosomy X. The normal XX sex chromosomes are not complete, meaning that only one of them is fully functional and present. In some rarer cases, the second chromosome X may be present, but abnormal (not completely developed). A woman with this genetic abnormality has undeveloped female sexual characteristics. They are shorter than the average and infertile (unable to conceive and give birth to a child) because their ovaries do not function. Turner’s Syndrome occurs is one out of 2000 female births from all around the world but is very common among stillbirths and miscarriages (pregnancies that do not survive to the term). The prevalence is similar in different countries.

Turner’s Syndrome Symptoms

Turner’s Syndrome is a genetic disorder affecting the karyotype of the female sex. If one of the two X chromosomes is missing or is incomplete, the respective patient will look different and will be more sensitive to various diseases. We will present you a list of the most common signs and symptoms of this chromosomal condition that are experienced by almost all the female patients. Some women may accuse particular symptoms or may present one or more of the following: short stature, poor breast development, characteristic facial features, reproductive sterility, low hairline, absence of menstrual periods (a condition called amenorrhea), swelling (lymphedema) of the feet and hands, widely-spaced nipples and shield chest (broad chest), undeveloped gonadal structure (rudimentary ovaries gonadal streak), increased obesity and weight etc.

Turner’s Syndrome may also be characterized by small fingernails, hearing loss, shield shaped thorax of heart, visual impairments (such as glaucoma, cornea, sclera etc), shortened metacarpal, coarctation of the aorta, ear infections, horseshoe kidney and webbed neck (webbing of the neck). At puberty, girls do not have the usual growth spurt. Less common symptoms are experienced by people who suffer from a more advanced form of Turner’s Syndrome and may include: turned-out elbows (cubitus valgus), dropping eyelids, micrognathia (small lower jaw), palmar crease, pigmented moles, narrow maxilla (high arch palate) and soft upturned nails. Each female suffering from this condition will accuse different symptoms that vary in intensity; no two women will share the same manifestations. The lack of estrogen can lead to osteoporosis and other related disorders.

Turner’s Syndrome Treatment

Genetic disorders can be diagnosed at any stage of life and even before birth by doing a chromosome analysis during the prenatal testing. Turner’s Syndrome is not an inherited chromosomal condition and can develop in pregnancies that do not survive to the term, such as miscarriages and stillbirths. The doctors usually look for signs of underdevelopment during the physical exam. Usually, small children suffering from this chromosomal abnormality have swollen feet and hands. Besides this, the doctor can order some tests that include: pelvic exam, blood hormone levels (FSH-follicle stimulating hormone and LH-luteinizing hormone), MRI (magnetic resonance imaging) scan of the chest area, heart ultrasounds (echocardiogram), ultrasound of kidneys and reproductive organs and chromosome analysis (karyotyping). The levels of estrogen in urine and blood may also be altered. After receiving the results of these tests and if they are positive, the doctor will proceed with the right treatment option for each case.

Because Turner’s Syndrome is a chromosomal disorder, there is no specific “cure” for this medical condition. The treatment options depend mainly on the symptoms experienced by every person and their main aim is to minimize the symptoms. If a child or a woman deals with short stature, hormone replacement therapy is the perfect option. The therapy with estrogen is usually started when the girl is 13 or 14 years old and helps trigger the development of pubic hair, breasts or other sexual characteristics. This therapy has been used since the Turner’s Syndrome was first discovered in 1935. The main aim was to maintain a good bone integrity and health of the tissues. Becoming pregnant may be very difficult for women suffering from this disorder, but thanks to the science that has evolved so much in the last decades, this desire may fulfill very rapidly. If a woman diagnosed with Turner’s Syndrome wants to become a mother, she can use modern reproductive technologies. These patients may consider using a donor of eggs that helps creating an embryo, carried by the sick woman. In several countries, this therapy is considered illegal. If a patient who has Turner’s Syndrome is carefully and closely monitored by the health care provider, the quality of life is increased and she can have a healthy normal and happy life. If this medical condition is not discovered in time, possible complications may develop, including: diabetes, obesity, scoliosis, arthritis, high blood pressure, kidney problems, cataracts, heart defects etc.

It is very important for a young patient who suffers from this kind of condition to be monitored by a pediatric endocrinologist, who is a skilled doctor in conditions that develop in childhood caused by certain hormone imbalances. Some doctors choose to apply other treatment options such as growth hormone injections that can be applied in childhood; the dosage increases as the patient gathers height, at least few inches. It is very important to treat the medical condition in early stages, to increase the improving rate of the disease, and to avoid other more severe complications and manifestations that can worsen the condition.