Turner‘s Syndrome

Turner‘s Syndrome Definition

Turner‘s Syndrome it is a chromosomal condition that develops only in females when sex chromosomes (one of the X chromosomes) are partially or entirely missing. It can induce a variety of problems like developmental or medical which can include heart defects, ovary failures or short height.

Image Source: www.dermnetnz.org

Patients suffering from Turner’s syndrome are infertile, or unable to conceive a baby due to abnormal ovarian function. Other characteristics like swelling or puffiness of feet and hands (lymphedema) can differ among females like webbed neck (extra skin on the neck), kidney problems, heart problems and skeletal abnormalities.

Turner‘s Syndrome Incidences

This condition is rare occurring in about 1 out of 2500 female births globally, but it is common among gestations. Females with mild symptoms and signs can be diagnosed during their adult years while severe cases require diagnosis prenatally (before birth), during early childhood or infancy.

Turner Syndrome Causes

• Mosaicism: In the early phases of fetal development error it rarely occurs during cell division. It results in an improper distribution of cells, some have complete X chromosomes (two copies) while some have a single X chromosome copy.
• Monosomy: In this condition, X chromosome is entirely absent due to an error in mother’s egg or father’s sperm which results in only one X chromosome in every cell.
• Y chromosome Material: Minimal cases have some cells with only one copy of X chromosome while other not only has a copy of X chromosome but some Y chromosome material also. Individuals develop females biologically, but Y chromosome material increases the hazard of developing cancer named Gonadoblastoma.
• X chromosome Abnormalities: Sometimes missing abnormal parts of one X chromosome can take place. The cells have one altered and one complete copy, the error can develop in egg or sperm. It will result in all the cells having one changed and one complete copy. Also, the error in cell division can take place in early fetal development ensuing some cells containing missing or abnormal parts of X chromosomes. Image Source: en.wikipedia.org

Turner Syndrome Symptoms

Before Birth

Prenatally Turner’s syndrome is assumed based upon the cell-free DNA screening. It is a procedure to check for some chromosomal abnormalities in a growing baby by prenatal ultrasound or by using the mother’s blood sample. The Prenatal ultrasound of the baby affected with this condition will show:

• Abnormal Kidneys
• Abnormal Heart
• Abnormal fluid collections (Edema)
• Immense collection of fluid on the back of its neck

During Infancy or at Birth

• Low set ears
• Web-like or wide neck
• Broad chest with widely spaced nipples
• Slightly smaller than average height at birth
• Receding or small lower jaw
• Swelling of the hands and feet, particularly at birth
• Arms that turn outward at the elbows
• Cardiac defects
• High, narrow roof of the mouth (palate)
• Vile hairline at the back of the head
• Toenails and fingernails that are turned upward and narrow
• Short fingers and toes
• Slowed growth Image Source: en.wikipedia.org

In Teens & Adulthood

• No growth as expected during childhood
• Slowed growth
• No sexual changes as expected during puberty
• Without fertility treatment unable to conceive a child
• Sexual development halts during teenage
• Short height, less than what is expected for the female member
• Early menstrual cycle ending, but not due to pregnancy

Turner‘s Syndrome Complications

Turner’s syndrome affects growth and development of different body systems. However, it varies from one person to another.

• High Blood Pressure: Patients of this condition have a high risk of increased pressure which further increases the chances of specific disease of blood vessels and heart.
• Heart Problems: Most infants suffering from Turner’s syndrome born with heart abnormalities and defects in the structure of the heart that boasts serious complications. Heart problems include issues aorta or with large blood vessels which sections of the heart to deliver oxygen-rich blood.
• Hearing Loss: Sometimes, it is due to loss of the nerve function. Also, the increased risk of frequent ear infections results in hearing loss.
• Kidney Problems: Women with Turner’s syndrome experience malfunction of kidneys. But these problems do not cause severe medical issues, in some cases, they might increase the risk of urinary tract infection and high blood pressure.
• Vision Problems: Strabismus (weak muscle control of the eye), other vision problems and nearsightedness are some problems suffered by the patients.
• Skeletal Problems: The condition stills the growth of bones which increase the risk of scoliosis (abnormal curvature of the spine) and (kyphosis) forward rounding of the upper back. Patients also tend to develop brittle and weak bones (osteoporosis).
• Autoimmune disorders: Women with Turner’s syndrome are exposed to the risk of hypothyroidism (underactive thyroid) due to Hashimoto’s thyroiditis an autoimmune disorder. Moreover, they are at higher risk of diabetes. Some patients also suffer from inflammatory bowel disease or celiac disease (gluten intolerance).
• Mental Health Issues: Patients find it difficult to function properly in social situations and suffer from hyperactivity disorder/ attention deficit (ADHD).
• Learning Disabilities: Patients with Turner’s syndrome are averagely intelligent, but suffer from learning disabilities. They find it difficult to learn concepts related to math, theory, attention, and memory.
• Infertility: Patients are infertile, but very rarely women can get pregnant spontaneously while some can with fertility treatment.
• Pregnancy Complications: Pregnant women are at increased risk of complications like aortic dissection, high blood pressure. These problems require evaluation before pregnancy.

Turner Syndrome Diagnosis

• Infancy or At Birth: Different symptoms are observed, and sometimes the diagnosis is started right after birth due to heart, kidney abnormalities and unusual swelling of feet and hands. Infants are also diagnosed due to slow growth rate. Image Source: en.wikipedia.org
• Teens and Adulthood: Sometimes diagnosis is started during teenage due to lack of puberty. This condition is also suspected after performing ultrasound during pregnancy that is also known as prenatal test, sampling or amniocentesis to acquire cells from the unborn baby for chromosomal testing. If the diagnosis confirms prenatally, the baby might be under the care of a specialist pediatrician right after the birth. However, the diagnosis is confirmed after the blood test, karyotype. It is used to check the chromosomal composition.

Turner Syndrome Treatment

Due to various complications, there is a variety of therapies available depending upon the severity of the case. Adolescent patients should be under the care of a hormone specialist, a pediatric endocrinologist.

Hormone Injections

For some individuals growth hormone injections are beneficial. It helps in developing the skeletal system and prevents the blockage caused by inadequate hormonal problems. Also, at the time of normal puberty around 12 years, estrogen replacement therapy is started to develop breasts. But progesterone and estrogen both are given later to start the monthly ‘period,’ which is essential to keep the heart healthy. Estrogen also prevents osteoporosis.

Surgery

Babies who have inborn aorta narrowing or heart murmur require an operation to correct the system. An early checkup will follow up the necessary treatment.
Moreover, patients suffer from hearing loss and an ENT specialist is essential to relieve the patient from the problem. High blood pressure is the most common issues for the Turner’s syndrome patients caused due to the narrow aorta or abnormal kidney functions or sometimes the reasons are unknown. Hence, the patient should have their pressure checked regularly and take the necessary medication to treat the problem.  Regular visits to specialists can monitor thyroid and diabetes.

Specialized Clinics

Regular checks are crucial to keep the patient healthy. There are some clinics which provide care for patients with a variety of specialists. Early treatment and preventive care are essential as appropriate medical treatment can help a person to lead a healthy, normal and happy life.