I just found out that today is rare disease day so I decided to feature this week's post on a rare condition one of my friends has: Turner Syndrome, which February is also the awareness month for. You may not have heard of it so now is a great time to learn!
What is Turner Syndrome? This disease simply occurs when a female is born with a missing, partially missing, or altered X chromosome. The ways this happens are as follows. Monosomy occurs when there is a complete absence of an X chromosome because of an error in the father's sperm or in the mother's egg. This results in every cell in the body having only one X chromosome. Mosaicism happens when an error occurs in cell division during early stages of fetal development. This results in some cells in the body having two complete copies of the X chromosome while other cells have only one copy of the X chromosome. X chromosome abnormalities occur when abnormal or missing parts of one of the X chromosomes can occur. Then cells have one complete and one altered copy. This error can occur in the sperm or an egg with all cells having one complete and one altered copy, or the error can occur in cell division in early fetal development so that only some cells contain the abnormal or missing parts of one of the X chromosomes (Mosaicism). Y chromosome material occurs in a small percentage of Turner Syndrome cases when some cells have one copy of the X chromosome and other cells have one copy of the X chromosome and some Y chromosome material. These individuals develop biologically as female, but the presence of Y chromosome material increases the risk of developing a type of cancer called Gonadoblastoma.
What are the symptoms? The symptoms of Turner Syndrome range from mild to severe so diagnosis can happen as early as prenatally, during birth, and even as late as early adulthood. During a mother's pregnancy, an ultra sound may find abnormal kidneys, heart abnormalities, or edema (large fluid collection on the back of the neck or other places on the body). Signs at birth or during infancy may include: a wide or web-like neck, low-set ears, a broad chest with widely spaced nipples, a high and narrow roof of the mouth (palate), arms that turn outward at the elbows, fingernails and toenails that are narrow and turned upward, swelling of the hands and feet, slightly smaller than average height at birth, slowed growth, cardiac defects, a low hairline at the back of the head, a receding or small lower jaw, or short fingers and toes. The most common signs in almost all girls, teenagers and young women are short stature and ovarian insufficiency due to ovarian failure that may have occurred at any point in their growth. Signs and symptoms of these include slowed growth, no growth spurts at expected times in childhood, adult height significantly less than what might be expected for a female member of the family, failure to begin sexual changes expected during puberty, sexual development that "stalls" during teenage years, an early end to menstrual cycles not due to pregnancy, and for most women with Turner syndrome, inability to conceive a child without fertility treatment.
What are the complications? Issues that can occur from Turner's Syndrome are as follows. Many infants are born with slight abnormalities in heart structure that increase their risk of serious complications or heart defects which often include problems with the aorta. Women with Turner Syndrome also have an increased risk of high blood pressure. Hearing loss is common, in some cases, due to the gradual loss of nerve function, but an increased risk of frequent middle ear infections can also result in hearing loss.
Girls with Turner Syndrome are at an increased risk of suffering from weak muscle control of eye movements (Strabismus), nearsightedness and other vision problems, as well as malformation of the kidneys. This may increase the risk of high blood pressure and urinary tract infections, even if it doesn't cause any more serious issues. Those with Turner Syndrome also have an increased risk of an underactive thyroid (Hypothyroidism), Diabetes, gluten intolerance (Celiac Disease), or inflammatory bowel disease. Problems with the growth and development of bones increases the risk of abnormal curvature of the spine (Scoliosis), forward rounding of the upper back (Kyphosis), and an increased risk of developing weak, brittle bones (Osteoporosis). Girls and women with Turner syndrome usually have normal intelligence, however, there is increased risk of learning disabilities, particularly with learning that involves spatial concepts, math, memory and attention. Girls and women with Turner syndrome may have difficulties functioning well in social situations and have an increased risk of attention-deficit/hyperactivity disorder (ADHD). Most women with Turner Syndrome are infertile, however, a very small number may become pregnant spontaneously, and some can become pregnant with fertility treatment. Because women with Turner Syndrome are at increased risk of complications during pregnancy, they should be evaluated by a cardiologist before pregnancy.
How is it treated? Treatments for Turner Syndrome are based off of the patient's specific symptoms, so they can vary widely, but for most girls, growth hormone therapy — usually given daily as injections of recombinant human growth hormone — is recommended to increase height and bone growth as much as possible at appropriate times during early childhood until the early teen years. In girls with very short stature, the doctor may recommend Oxandrolone in addition to the growth hormone, which increases the body's production of protein and improves bone mineral density. Most girls will need to start estrogen and related hormone therapy in order to begin puberty around age 11 or 12. Estrogen helps to promote breast development, improves the volume of the uterus, helps with bone mineralization, and when used in addition to a growth hormone, may also help with height. Estrogen replacement therapy usually continues throughout life, until the average age of menopause is reached. Due to the hormonal balance issues, Turner Syndrome ladies can experience Dyspareunia (painful sex), just like those of us with Endometriosis, Vaginismus, or Vulvodynia.
It's important to note that the chromosomal causes happen at random and this condition doesn't run in the family. It can happen to anyone born female, but is quite rare with an occurrence of only 1 in every 2,500 births, but more frequently in miscarriages and stillbirths. A shocking 98% of Turner Syndrome babies end in miscarriages so the survivors are true miracle babies! It's absolutely possible to lead a normal, enriching life with Turner's Syndrome, it's just recommended to have annual visits with your doctor to monitor symptoms and make sure additional treatments aren't needed.