Turner Syndrome

Common cardiac anomalies include coarctation of the aorta Coarctation of the Aorta Coarctation of the aorta is a localized narrowing of the aortic lumen that results in upper-extremity hypertension, left ventricular hypertrophy, and, if severe, malperfusion of the abdominal... read more and bicuspid aortic valve. Hypertension frequently occurs with aging, even without coarctation. Renal anomalies and hemangiomas are frequent. Occasionally, telangiectasia occurs in the gastrointestinal (GI) tract, with resultant GI bleeding or protein loss. Hearing loss may occur; strabismus Strabismus Strabismus is misalignment of the eyes, which causes deviation from the parallelism of normal gaze. Diagnosis is clinical, including observation of the corneal light reflex and use of a cover... read more and hyperopia (farsightedness) are common and increase the risk of amblyopia Amblyopia Amblyopia is functional reduction in visual acuity of an eye caused by disuse during visual development. Severe loss of vision can occur in the affected eye if amblyopia is not detected and... read more . Thyroiditis, diabetes mellitus, and celiac disease are more common than among the general population.

Infants are at a higher risk of developmental dysplasia of the hip Developmental Dysplasia of the Hip (DDH) Developmental dysplasia of the hip (formerly congenital dislocation of the hip) is abnormal development of the hip joint. (See also Introduction to Congenital Craniofacial and Musculoskeletal... read more . Approximately 10% of adolescents have scoliosis Diagnosis Idiopathic scoliosis is lateral curvature of the spine. Diagnosis is clinical and includes spinal x-rays. Treatment depends on the severity of the curvature. Idiopathic scoliosis is the most... read more . Osteoporosis and fractures are fairly common among women with Turner syndrome. Gonadal dysgenesis (ovaries replaced by bilateral streaks of fibrous stroma and devoid of developing ova) occurs in 90% of females. Between 15% and 40% of adolescents with Turner syndrome undergo spontaneous puberty, but only 2 to 10% undergo spontaneous menarche.

Intellectual disability is rare, but many girls have nonverbal learning disability, attention-deficit/hyperactivity disorder Attention-Deficit/Hyperactivity Disorder (ADD, ADHD) Attention-deficit/hyperactivity disorder (ADHD) is a syndrome of inattention, hyperactivity, and impulsivity. The 3 types of ADHD are predominantly inattentive, predominantly hyperactive/impulsive... read more , or both and thus score poorly on performance tests and in mathematics, even though they score average or above in the verbal components of intelligence tests.

Many neonates are very mildly affected; however, some present with marked dorsal lymphedema of the hands and feet and with lymphedema or loose folds of skin over the back of the neck. Other frequent anomalies include a webbed neck and a broad chest with widely spaced and inverted nipples. Affected girls often are short in stature compared with family members, and obesity is common.

Less common findings include a low hairline on the back of the neck, ptosis, multiple pigmented nevi, short 4th metacarpals and metatarsals, prominent finger pads with whorls in the dermatoglyphics on the ends of the fingers, and hypoplasia of the nails. Increased cubitus valgus (carrying angle) at the elbow occurs.

Symptoms of cardiac anomalies depend on severity. Coarctation of the aorta can cause high blood pressure in the upper extremities, diminished femoral pulses, and low or absent blood pressure in the lower extremities.

Gonadal dysgenesis results in premature ovarian failure Primary Ovarian Insufficiency In primary ovarian insufficiency, ovaries do not regularly release eggs and do not produce enough sex hormones despite high levels of circulating gonadotropins (especially follicle-stimulating... read more in most patients, manifested by absent or incomplete pubertal development, lack of breast development, amenorrhea (most patients have primary amenorrhea, but some have menarche and then secondary amenorrhea due to gonadal dysgenesis with premature ovarian failure), and infertility. A small proportion of patients have normal puberty and reproductive function (1 Symptoms and signs references In Turner syndrome, girls are born with one of their two X chromosomes partly or completely missing. Diagnosis is based on clinical findings and is confirmed by cytogenetic analysis. Treatment... read more ). The characteristic findings are ovaries with some connective tissue with either no or few follicles (termed streak gonads) (2 Symptoms and signs references In Turner syndrome, girls are born with one of their two X chromosomes partly or completely missing. Diagnosis is based on clinical findings and is confirmed by cytogenetic analysis. Treatment... read more ).

Other medical problems that are associated with Turner syndrome develop with aging and may not be evident without screening.

In neonates, the diagnosis of Turner syndrome may be suspected based on the presence of lymphedema or a webbed neck. In the absence of these findings, some children are diagnosed later, based on short stature, lack of pubertal development, and amenorrhea.

Diagnosis is confirmed by cytogenetic analysis (karyotyping, FISH analysis, and/or chromosomal microarray analysis). (See also diagnosis of chromosomal abnormalities Diagnosis Chromosomal abnormalities cause various disorders. Abnormalities that affect autosomes (the 22 paired chromosomes that are alike in males and females) are more common than those that affect... read more .)

Echocardiography or MRI is indicated to detect cardiac anomalies and for ongoing surveillance.

Cytogenetic analysis and Y-specific probe studies are done for all people with gonadal dysgenesis to rule out mosaicism with a Y-bearing cell line (eg, 45,X/46,XY). These people are usually phenotypic females who may have variable features of Turner syndrome. They are at an increased risk of gonadal tumors, especially gonadoblastomas, some of which may become malignant. Because of this potential for cancer, prophylactic gonad removal, although controversial, is often recommended.

There is no specific treatment for the underlying genetic condition, and management is based on an individual's findings.

Coarctation of the aorta is usually repaired surgically. Other cardiac anomalies are monitored and repaired as needed.

Lymphedema can usually be controlled with support hosiery and other techniques such as massage.

Treatment with growth hormone can stimulate growth. Estrogen therapy is usually needed to initiate puberty and is typically given at age 12 to 13 years. Thereafter, estrogen/progestin contraceptives are given to maintain secondary sexual characteristics. Growth hormone can be given with estrogen therapy until epiphyses are fused, at which time growth hormone is stopped. Continuation of estrogen therapy helps establish optimal bone density and skeletal development. Estrogen therapy may also improve the girl’s ability to plan tasks, pay attention, and assess visual and spatial relationships (1 Treatment reference In Turner syndrome, girls are born with one of their two X chromosomes partly or completely missing. Diagnosis is based on clinical findings and is confirmed by cytogenetic analysis. Treatment... read more ).

People with mosaic Turner syndrome may become pregnant, and they should use contraception if they are sexually active and want to prevent pregnancy. Fertility may be limited, so if they wish to become pregnant, they usually require alternative fertility interventions.