Turner Syndrome

At birth, girls with Turner syndrome may have swollen hands and feet because of lymphedema. The blend of dysplastic or hypoplastic nails and lymphedema gives a characteristic sausage-like appearance to the fingers and toes in infants. They also have increased chances of congenital hip dislocation.

In adults, short stature is due to both a slightly slower growth rate in childhood and to an essentially absent adolescent growth spurt. Prior to 11 years of age, few girls have height and growth rates that are well within the normal range, but heights are less than the 50th percentile for girls who do not have Turner syndrome [4].

A high arched palate suggests the diagnosis. Dental crowding or malocclusion can be seen in these people. Many patients have hypoplastic or hyperconvex nails. Excessive numbers of nevi, when compared to other members of the family, is usual.

Lymphedema in utero can cause a broad neck (webbed neck) and a low or indistinct hairline.

Cubitus valgus is a common skeletal anomaly in girls due to abnormal development of the trochlear head. Madelung’s deformities of the wrist are seen too. An undersized fourth and fifth metacarpal or metatarsal can be a clue to the presence of Turner syndrome.

The chest appears to be broad with widely spaced nipples (Shield chest). This may be caused in part by a short sternum.

Ptosis, strabismus, amblyopia, and cataracts are more common in girls with this syndrome. Epicanthal folds could be seen. Red-green color blindness is a condition linked to X chromosome and is believed to occur in girls with Turner syndrome as commonly as it does in males.

Serous otitis media is more common, probably because of low anatomic drainage of the middle ear, that may be because of high-arched palate [5]. The auricles may be posteriorly rotated or low set as a result of lymphedema. Otosclerosis leads to hearing loss in adults.

Gastrointestinal bleeding is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased.

Scoliosis occurs in 10% of adolescent girls with Turner syndrome and may contribute to short stature.

Blood pressure elevations may be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings. ardiovascular malformations include hypoplastic left heart [6], coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adolescence.

As many as half of patients have positive antithyroid antibodies, and 10-30% develop hypothyroidism [7]. This is often associated with thyroid enlargement.

Cutis laxa are the loose folds of skin, particularly in the neck, are signs in newborns.

A standard 30-cell karyotype analysis is required for diagnosis of Turner syndrome, in order to exclude mosaicism [9]. Patients with Turner syndrome should be investigated for the presence of Y chromosomal material using a Y-centromeric probe. Malignant gonadoblastomas or testicular tissue might be seen in these patients [9].

Both LH and FSH may be elevated in untreated patients younger than 4 years; they are later suppressed to normal or near-normal levels, but after 10 years of age they rise to menopausal levels [10].

Due to the high prevalence of hypothyroidism in association with Turner syndrome [7], obtain thyroid function tests at diagnosis; repeat TSH measurements every 1-2 years or if symptoms develop, as a person can develop hypothyroidism in later age.

Abnormalities of glucose metabolism, inclusive of overt diabetes mellitus, are commonly seen; screening for diabetes mellitus is best performed by obtaining a hemoglobin A1c or fasting glucose level. People suffering from this syndrome should have blood urea nitrogen (BUN), creatinine, fasting lipids, liver enzymes, measured annually after childhood for routine health maintenance.

Turner syndrome may be prenatally diagnosed by amniocentesis or chorionic villous sampling. Get a karyotype by any of these methods if ultrasonography of a fetus reveals a nuchal cystic hygroma [11] [12], horseshoe kidney, left-sided cardiac abnormalities, or nonimmune fetal hydrops.

Patients with Turner syndrome require screening for commonly associated chronic diseases.

Growth hormone therapy

• In childhood, growth hormone therapy is the basis to avoid short stature as an adult [13] [14] [15].
• The optimum age to begin this treatment has not been established; taller adult heights occur with the longest treatment durations before the start of puberty.
• Growth hormone can have long-term favorable effects on lipids, despite of stopping it [16].

Sex hormone replacement therapy

• Estrogen replacement therapy is generally needed, but commencing too early or taking doses that are too high can compromise adult height. Estrogen is generally given at age of 12-15 years. Regular low-dose estrogens should be cycled in a 3-weeks on, 1-week off regimen after 6-18 months; progestin can be added later.

Consultations with specialists like endocrinologist, cardiologist, nephrologist or urologist, and psychologist are needed as this syndrome affects all major systems of the body at some time or the other during its course [8].

Both short stature and ovarian failure are risk factors for osteoporosis, it should be seen that there is sufficient daily intake of calcium (1.0-1.5 g) and vitamin D (at least 400 IU).

Because Turner syndrome is a condition of missing or altered chromosomes, it is not curable. The prognosis of this syndrome can be better, with meticulous and regular monitoring of a person's health and early treatment of problems that can develop. Most of the females with Turner syndrome lead full and active lives and can expect a normal lifespan.

Turner syndrome is caused by the absence of two complete copies of the X chromosome in some or all the cells. The exact reason for the loss of the second copy of the X chromosome hasn’t clearly been understood yet.

Turner syndrome is one of the most common chromosomal abnormalities, seen in almost 1 in 2000 live-born female babies [1] [2].

A girl inherits one X chromosome from each of the parents. In case a girl has Turner syndrome, one copy of the X chromosome is absent or significantly altered. The genetic transformations of Turner syndrome may be one of the following:

• Complete absence of an X chromosome that generally occurs because of an error in either the father's sperm or the mother's egg. Therefore, all cells in the body have only one X chromosome - a condition called monosomy (45,X). In the majority of cases where monosomy occurs, the X chromosome comes from the mother [3].
• In some cases, an error occurs in cell division during early stages of fetal development. Hence, few cells in the body have two integrated copies of the X chromosome and remaining cells have only one copy of the X chromosome, or they have one integrated and one changed copy. This condition is known mosaicism.
• In a small percentage of cases of Turner syndrome, few cells have one copy of the X chromosome and remaining cells have a copy of the X chromosome and little Y chromosome material.

There is currently no known method of prevention for Turner syndrome. It occurs randomly and is not hereditary. Hence it is not mandatory for the daughter to have it even if the mother has this disorder.

If there is suspicion of Turner syndrome during pregnancy, prenatal screening and diagnostic tests may be performed to determine if a mother's fetus has the disorder.

Turner syndrome is a condition that affects only females, resulting from an absent or incomplete sex chromosome. In some cases, the chromosome is missing in some cells but not in all, leading to a condition known as mosaicism or "Turner mosaicism".

Turner syndrome is a genetic disorder caused due to X chromosome anomaly and hence is always seen in females. It affects almost all the major systems in the body but is not a cause of mental retardation [17] as these people are more likely to be employed than other adult women [18].

Life expectancy is slightly shorter than average but may be improved by attention to associated chronic illnesses, such as obesity and hypertension [17]. Almost all individuals are infertile, but pregnancy with donor embryos is possible [19].

The Turner Syndrome Society of the United States and other organizations arrange for tutorial materials, funds for families and data about support groups. Associations for parents give an opportunity to exchange ideas, form coping plans and find resources. A community for girls with Turner syndrome can help reinforce your self-esteem and provide you with a social network of people who understand your experience with Turner syndrome.

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