Turner Syndrome is a chromosomal disorder that describes girls and women with common features that are caused by complete or partial absence of the second sex chromosome. It occurs in ~ 1 in 2500 female births and in as many as 10% of all miscarriages.
Turner Syndrome diagnosis is made by cytogenetic analysis. A blood sample is obtained and cells are examined for the chromosomal abnormality. This test may also be referred to as a karyotype.
Congenital lymphedema (puffy hands and feet)
Cubitus valgus (arms turn out at the elbows)
Short 4th metacarpal (bone in the hand)
Hypoplastic/hyperconvex nails (overly curved)
Low hair line
Low set ears
High arched palate
Slight droop to the eyes
Retrognathia (receding jaw)
Strabismus (eyes do not point in the same direction)
Scoliosis (curvature of the spine)
Nevi (moles or birthmarks)
Short stature: This is the most common feature of Turner Syndrome. The average height of an adult female without any hormonal treatment is 4’ 8”. Girls with Turner syndrome are often average size at birth but the short stature becomes more evident as they get older. Most girls do not have a pubertal growth spurt. Many girls with Turner Syndrome who are started on growth hormone therapy at a young age (approximately 2 years) are able to reach an adult height within the lower normal range.
Primary Ovarian Failure: 90% of girls with Turner syndrome will experience ovarian failure. This manifests as estrogen deficiency and lack of fertilizable eggs. Most girls will need estrogen replacement therapy to help them develop breasts, start menstruation and to achieve bone mass accrual. Approximately 30% of females will show some signs of breast development without estrogen therapy but many will not complete puberty. Those that do complete puberty often have premature ovarian failure. The majority of girls will need estrogen replacement from the age of puberty until the normal age of menopause. Fertility without assistant medical/reproductive therapy is rare (less than 1%) but in some cases pregnancy can be achieved through donor egg and in-vitro fertilization.
Intelligence: Girls with Turner Syndrome have normal overall intelligence as the general population. However, they do have problems with spatial temporal processing, nonverbal memory, attention, sense of direction, math, manual dexterity and social skills.
Heart: One third of girls with Turner Syndrome have a cardiac abnormality. The majority of problems involve the left side of the heart (bicuspid aortic valve, coarctation of the aorta). They are also at higher risk for development of high blood pressure. All patients should have an echocardiogram or an MRI to evaluate the heart at the time of diagnosis and have their heart re-evaluated periodically for aortic root enlargement at approximately every three years.
Kidney: 30% of patients will have kidney abnormalities. Many of these abnormalities do not cause medical problems but some may result in more frequent urinary tract infections and increased risk for high blood pressure. Patients should receive a renal ultrasound examination at time of diagnosis.
Thyroid: Hypothyroidism caused by autoimmune thyroiditis occurs frequently in girls with Turner syndrome.
Ears: Ear infections are common in girls with Turner syndrome, especially in infancy and early childhood. Aggressive treatment of infections is appropriate to prevent conductive hearing loss. However, sensorineural (nerve) hearing loss is also more common in females with Turner syndrome.
Gastroenterology: Girls with Turner syndrome are at higher risk for developing celiac disease and inflammatory bowel disease.