Turner Syndrome

Many newborns with Turner syndrome are mildly affected, but some have swelling (lymphedema Lymphedema Lymphedema is the accumulation of lymph in tissues, resulting in swelling. When lymphatic vessels are injured or obstructed, lymph fluid cannot drain and accumulates in tissues, causing swelling... read more ) on the backs of their hands and tops of their feet. Swelling or loose folds of skin are often evident over the back of the neck. Heart defects include narrowing of part of the aorta (coarctation of the aorta Coarctation of the Aorta Coarctation of the aorta is a narrowing of part of the aorta, the main blood vessel bringing red oxygenated blood from the heart to the body. The aorta narrows, causing the heart to pump harder... read more ). Other abnormalities seen later include a webbed neck (wide skin attachment between the neck and shoulders) and a broad chest with widely spaced and inwardly turned nipples. Infants are at a higher risk of a problem with the hip joint called developmental dysplasia of the hip Developmental Dysplasia of the Hip Developmental dysplasia of the hip is a birth defect in which the bones in the hip are incorrectly developed. Birth defects, also called congenital anomalies, are physical abnormalities that... read more . Less common symptoms include drooping upper eyelids (ptosis), a low hairline at the back of the neck, moles Moles Moles are small, usually dark, skin growths that develop from pigment-producing cells in the skin (melanocytes). Most people have some moles, but the tendency to develop atypical moles is sometimes... read more (nevi), and poorly developed nails.

Girls with Turner syndrome generally do not have menstrual periods (amenorrhea Absence of Menstrual Periods Having no menstrual periods is called amenorrhea. Amenorrhea is normal in the following circumstances: Before puberty During pregnancy While breastfeeding read more ), and the breasts, vagina, uterus, and labia remain childlike rather than undergoing the changes of puberty (delayed puberty Delayed Puberty Delayed puberty is defined as absence of the start of sexual maturation at the expected time. Most often, children simply develop later than their peers but ultimately develop normally. Sometimes... read more ). About 10% of adolescents have scoliosis Scoliosis Scoliosis is abnormal curvature of the spine. Scoliosis can be present at birth or can develop during adolescence. Mild forms may cause only mild discomfort, but more severe forms can cause... read more . In 90% of girls, the ovaries are replaced by connective tissue and do not contain developing eggs (gonadal dysgenesis), so these girls are infertile. A girl or woman with Turner syndrome is often short compared with family members, and obesity is common.

Other problems may develop. High blood pressure High Blood Pressure High blood pressure (hypertension) is persistently high pressure in the arteries. Often no cause for high blood pressure can be identified, but sometimes it occurs as a result of an underlying... read more frequently occurs with aging even if the girl does not have coarctation. Kidney defects, diabetes mellitus Diabetes Mellitus (DM) in Children and Adolescents Diabetes mellitus is a disorder in which blood sugar (glucose) levels are abnormally high because the body does not produce enough insulin or fails to respond normally to the insulin produced... read more , and thyroid diseases are common. Occasionally, abnormal blood vessels in the intestine cause bleeding. Hearing loss Hearing Impairment in Children Hearing impairment refers to any degree of hearing loss, mild to severe, and can occur when there is a problem with a part of the ear, including the inner, middle, and outer ears, or the nerves... read more may occur, and crossed eyes (strabismus Strabismus Strabismus is an intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. If untreated, strabismus can cause amblyopia ... read more ) and farsightedness (hyperopia) are common. Celiac disease Celiac Disease Celiac disease is a hereditary intolerance to gluten (a protein found in wheat, barley, and rye) that causes characteristic changes in the lining of the small intestine, resulting in malabsorption... read more , inflammation of the thyroid gland, and diabetes mellitus occur more frequently among girls with Turner syndrome compared to the general population. There is an increased risk of an enlarged aorta so girls need to be screened regularly with echocardiography. Girls with Turner syndrome caused by a certain type of chromosome abnormality are at increased risk of a tumor of the ovaries called gonadoblastoma, which may be cancerous.

Many girls with Turner syndrome have attention-deficit/hyperactivity disorder Attention-Deficit/Hyperactivity Disorder (ADHD) Attention-deficit/hyperactivity disorder (ADHD) is poor or short attention span and/or excessive activity and impulsiveness inappropriate for the child’s age that interferes with functioning... read more and learning disabilities Learning Disorders Learning disorders involve an inability to acquire, retain, or broadly use specific skills or information, resulting from deficiencies in attention, memory, or reasoning and affecting academic... read more with difficulty assessing visual and spatial relationships, planning tasks, and paying attention. They tend to score poorly on certain performance tests and in mathematics, even if they achieve average or above-average scores on verbal intelligence tests. Intellectual disability is rare.