TS Terminology

Receiving a diagnosis of Turner syndrome can be overwhelming, especially trying to figure out what all those medical words mean. Below is a glossary of terminology that you might read about or hear along your journey. 


  • Amblyopia: More commonly known as a “lazy eye,” amblyopia can be caused by a misalignment of the eyes, a difference in the prescription between the two eyes, cataracts, drooping of the eyelids, or a hereditary cause. It is diagnosed by exclusion—eliminating other possible causes until it’s the only one that remains. It is often treated by what is called “occlusion therapy.” This consists of patching the “good” eye to force the other one to work.


  • Aortic Dissection: Aneurysm caused by a tear in the internal lining of a blood vessel, which leads to blood leaking into the middle layer of the blood vessel lining.  The symptoms are similar to a heart attack—sudden and severe chest pain, but it may move to the back, abdomen, and hips. If not caught and treated with medication to reduce blood pressure and heart rate, it can be fatal.


  • Astigmatism: The result of the cornea (the outermost part of the eye, the transparent layer,) being unable to properly focus an image onto the retina, which results in a blurry image. This is caused by a problem in the shape of the cornea. Usually the cornea is round, like a baseball, but with an astigmatism, it can be more oblong, like a football.


  • Audiogram: A hearing test done by audiometry, which is a procedure that tests a person’s ability to hear various sound tones and frequencies. An audiogram will test both the bone conduction and air conduction of the ear, which can help the doctor determine where the flaw in the hearing is. This test produces a graphic record that shows the hearing ability of the patient.


  • BAHA Device: A type of hearing aid based on bone conduction. It is best suited to people who have chronic ear diseases, single-sided deafness, external ear canal problems, and malformations of the ear. BAHA devices are used in patients who have conductive hearing loss, unilateral hearing loss, and those with other hearing loss who can’t wear in-ear or behind the ear hearing aids due to skin or malformation problems. The drawback of a BAHA is that it is a surgical procedure, as the device is implanted under the skin. However, new advances in surgery allow this to be done as an outpatient procedure and with a smaller incision.


  • BAV: Abbreviation for Bicuspid Aortic Valve, a congenital disease of the aortic valve. Essentially, this means that instead of the valve being tricuspid (having three points,) two of the valvular leaflets fuse during the heart’s development, leaving the valve with only two points. This can cause problems with stamina, as the heart is under more stress in order to pump blood. Often, a BAV is diagnosed by the presences of a heart murmur and differences in blood pressure between the upper body and lower body.


  • Bone Density: Measurement of the mineral content of the bone, used to help measure the strength of the bone and to test for osteoporosis. The technical definition is the amount of mineral content per unit volume of bone.


  • Cardiology: A branch of medicine focused on the heart and its function.


  • Celiac Disease: An intestinal disorder that prevents the body from absorbing gluten properly, which triggers an immune response, causing damage to the small intestine. Gluten is commonly found in wheat, barley, and rye, but can also be found as an additive in a lot of other foods. Celiac disease interferes with the absorption of nutrients, and if left untreated can lead to malnutrition and damage to the intestines and digestive system.


  • Cholesteatoma: A cyst that looks like a compact shiny flaky mass—also called a “pearly tumor,” although it is benign and not a tumor. They are most commonly found in the middle ear or the mastoid area. They can be congenital or acquired after trauma or infection in the area.


  • Chorionic Villus Sampling: A prenatal test to detect genetic disorders early in pregnancy. It is done by inserting a catheter either through the cervix or through the abdomen (using a needle) and extracting a small sample from the placenta. This is usually done between weeks 10 and 13 of pregnancy. It can reveal chromosomal conditions and other genetic conditions. Sometimes, the results of a CVS can be unclear, and the doctor may order follow-up screening, like amniocentesis, to clarify.


  • Coarctation of the Aorta: A birth defect that causes the aorta to narrow. This causes high blood pressure before the narrowed area and low blood pressure after it. This can mean that the parts of the body supplied before the narrowing will have high blood pressure, while the lower body does not receive enough blood circulation. This then leads to the heart to work harder to compensate. Infants with Turner syndrome have a 45% rate of having coarctation.


  • Conductive Hearing Loss: Hearing loss resulting from something preventing the transmission of sound waves through the external ear to the middle ear. This can either come from a blockage in the external ear or damage to the middle ear. Common causes include something blocking the ear canal, perforated eardrum, and congenital malformations.


  • Cubitus Valgus: A condition  where the forearm is angled away from the body at a greater angle than normal when fully extended. When this is present at birth, it can be an indicator of Turner syndrome.


  • Cystic Hygroma: A cystic growth growing from lymphatic tissue. It is usually found in the neck, groin, or under the arm, but can be in other places as well.


  • Dilatation of the Aorta: Also called an aortic aneurysm, this is an enlargement of the aorta to larger than 1.5 times the normal size. Many instances do not cause any symptoms, but if they rupture, they can cause massive internal bleeding. Ultrasound monitoring and screening  are used for patients at risk for developing dilatation of the aorta.


  • Echocardiogram: A procedure to examine the heart. This procedure involves a sonogram (ultrasound) of the heart to help the doctor see the heart and surrounding tissue in order to monitor or diagnose any potential or existing problems. This procedure might also be called simply an “echo.”


  • Endocrinology: A branch of medicine focused on the endocrine system, which regulates and produces hormones. Endocrinology is the study of this system and the treatment of any problems that arise.


  • Epicanthic Fold: The skin fold of the upper eyelid that covers the inner corner of the eye. Having a prominent epicanthic fold can be an important diagnostic finding in conditions like Down syndrome and Turner syndrome.


  • Executive Function: The cognitive functions that control things like abstract concept formation, goals, mental flexibility, inhibition control, and working memory. The executive functions control a person’s ability to organize, prioritize, manage time, and make decisions. When they are impaired, any of these elements can be hampered, and can lead to a range of mental disorders.


  • Geneticist: A biologist who focuses on the study of genetics—the makeup, heredity, and variations of an organism.


  • Genotype: The genetic characteristics of an individual.


  • Gonadal Dysgenesis: A variety of syndromes that occur because of defects in gonadal developments, seen in the makeup of the sex chromosomes. Turner syndrome, with the 45 X makeup is one of these syndromes.


  • Growth Hormone/GH/HGH: Growth hormone is the hormone somatotropin. It is secreted by the pituitary gland, but in some cases (as with Turner syndrome,) it may not be appropriately produced and needs to be supplemented. A synthetic form of the growth hormone, called somatropin, is typically used in growth hormone treatment. This treatment involves the hormone being injected, usually using tiny insulin syringes so as to limit the discomfort.


  • Haploinsufficiency: A condition that occurs when a person only has a single functional copy of a gene (instead of two) and that one gene cannot produce enough of the needed gene product (usually a protein) to make up for the loss of the second gene. This can occur because of mutation in the other gene or because of deletion during the formatting process. It can lead to a variety of diseases and disorders.


  • Horseshoe Kidney: A defect where the right and left kidneys are connected at one end by a strip of tissue as a result of an incorrect fusion.


  • HRT/Hormone Replacement Therapy: The use of hormones (typically estrogen and progesterone) to make up for the lack of hormones naturally present in a woman’s body. This can prevent osteoporosis and other health issues that can be aggravated by low hormone levels. Women with Turner syndrome often have imbalanced hormonal levels, and HRT can help to alleviate that.


  • Hydrops: Buildup of fluid in tissues or body cavities. Another term for “edema.”


  • Hyperopia: More commonly known as “farsightedness.” This means that there is an inability or difficulty with seeing objects that are nearby clearly. It happens because of the eyeball being too short from front to back, which causes the cornea to focus the image behind the retina, instead of on it.


  • Hypertension: A condition characterized by consistently abnormally high blood pressure. It often results in the thickening and stiffening of the arteries. Hypertension can put the person at risk for various heart problems, including heart attack, heart failure, stroke, etc.


  • Hypoplastic Left Heart Syndrome: A congenital defect in the heart where the left side is underdeveloped. This leads to insufficient blood flow. Symptoms often first appear in early infancy.


  • Karyotype: The full set of chromosomes in an individual’s cells and their characteristics. Karyotyping is also the process of blood tests that allow doctors to analyze a person’s chromosomes and check for irregularities.

    • 45X Karyotype: The most common karyotype associated with Turner syndrome. This means that the woman is missing one of her X-chromosomes.

    • Mosaic Karyotype: This means that an individual’s cells do not have the same chromosomal composition. This means that some of the cells may have 46 chromosomes, while others have 45, and so on.

    • Ring Chromosome: A chromosome where both ends were damaged and lost in the formation of the cell and the two broken ends have joined to form a circular figure instead of the normal linear shape of chromosomes.


  • Lymphedema: An accumulation of fluid in tissue, especially the lower limbs, due to poor lymphatic drainage. Symptoms include swelling of the limb, tightness in the skin, pins and needles feeling, jewelry/clothing/accessories fitting tighter without weight gain. It is important that treatment is sought to prevent damage. Treatment can be found through therapy, compression garments, and avoiding trauma to the affected limb.


  • Malocclusion: A defect in the position of the upper and lower teeth when the mouth is closed—causing misalignment and the teeth not connecting like they should. This can be caused by problems with the jaw. It can lead to difficulty chewing.


  • MRI: The abbreviation for a “Magnetic Resonance Imaging” test. This procedure is used for a variety of reasons, but all require the patient to lie on a narrow bed which slides into a cylindrical machine and remain motionless while images are taken of the patient’s internal organs. The test can last from 15 to 90 minutes depending on the images being taken. It can help doctors get a more detailed look at organs and tissues without resorting to more invasive methods.


  • Myopia: More commonly known as “nearsightedness.” This means that there is an inability or difficulty with seeing objects that are far away clearly. It happens because of the images being focused in front of the retina instead of on it.


  • Nail Dysplasia: A condition in which the nails may be ridged, flaky, grow poorly, or perhaps be lost or absent.


  • Neuropsychologist: A specialist who focuses on a branch of psychology that looks at the connection between experience, behavior, and the functioning of the brain and nervous system.


  • NLD/NVLD: Abbreviation for Nonverbal Learning Disorder. This is a learning disorder that affects the right side of the brain. It hinders the processing of nonverbal and visual-spatial information, which can cause difficulties in coordination, balance, visual memory, pattern recognition, and mathematical ability.


  • Nuchal Folds: The distance between the base of the skull to the outer skin line on the back of a fetus’ neck. This can be measured while in utero via ultrasound to screen for various disorders.


  • Nuchal Transluscency: The soft tissue behind the neck of a fetus that can be measured while in utero via ultrasound to screen for various disorders.


  • Ocular: Of or relating to the eyes.


  • Osteoporosis: A condition in which the person’s bones become brittle and fragile because of loss of protein and calcium, decreasing the bone mass. The word literally means “porous bones.” This condition will, over time, lead to decreased strength and increased fragility in the bones.


  • Otitis Media: Inflammation or infection in the middle ear (behind the eardrum.) Symptoms include pain, fever, dizziness, and difficulty hearing.


  • Pediatric Gynecologist: A gynecologist who specializes in pediatric care. This can mean surgical and medical treatment of gynecologic abnormalities, congenital defects and conditions, and so on. Pediatric gynecologists will aid with ovarian problems, fertility help as a young woman enters puberty, referrals to specialists for hormone therapy, and any other gynecological needs affected by Turner syndrome.


  • Phenotype: The outward, physical characteristics of an individual. The phenotype is influenced by the person’s genotype and their environment.


  • Psychosocial: Involving aspects of both social and psychological behavior. This can include process and factors that are both social and psychological in their origin, or the interaction between these factors.


  • Ptosis: Abnormal lowering or drooping of an organ, especially the upper eyelid. This can be caused by muscle weakness or paralysis.


  • Reproductive Endocrinologist: A fertility specialist that focuses on medical and surgical treatment of disorders in the female reproductive system. They are also trained in obstetrics and gynecology. Women dealing with polycystic ovarian syndrome, endometriosis, fertility preservation options, etc. would seek care from a reproductive endocrinologist.


  • Retrognathia: A condition where one or both of the jaws is misaligned or receded, usually the lower jaw. This is in relation to the plane of the forehead.


  • Sensorineural Hearing Loss: Hearing loss resulting from damage to the inner ear or the nerves connected to hearing. This type of hearing loss happens when there is dysfunction in either the perception or interpretation of sound waves. It can come from noise damage, childhood infections, skull fractures, and hereditary diseases among other things.


  • SHOX Gene: Abbreviation for the “Short Stature Homeobox Gene.” This is a gene on the X chromosome and Y chromosome that is associated with short stature if also present in the case of haploinsufficiency.


  • Social Communication: A method of helping those who are facing communication or social challenges to better understand the way that communication in groups works. It begins with the idea of sharing space—that you have to be aware of your body, how you move, your voice, and the intentions and needs of others when communicating. This theory can be extremely helpful to young people when determining which social skills are needed in different situations.


  • Strabismus: Commonly known as a “squint,” this is caused by a defect where one eye cannot focus with the other on an object because of imbalance in the eye muscles. It can also give the effect of making one eye look cross-eyed.


  • Turner Syndrome: A genetically determined syndrome that affects only girls and women. It is usually associated with the young woman having only one complete X chromosome, instead of two complete X chromosomes. It can cause a variety of symptoms in affected young women, but the most common are short height, infertility (to varying degrees), and congenital heart defects. Turner syndrome can be diagnosed prenatally or during any stage of life, with many young women choosing to undergo hormone therapy at appropriate ages to help with growth and puberty.


  • Working Memory: The current contents of a person’s consciousness, in psychology. It is the memory of information for a few seconds to hours—short-term.

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