Scoliosis deformity of the spine occurs in 10 percent of adolescent girls who have Turner syndrome. The thyroid gland becomes under-active in about 10 percent of women who have Turner syndrome.
What are the symptoms for Turner syndrome? It occurs 1 in births in the female. The genetic alterations of Turner syndrome may be one of the following: However, as noted above, kidney problems may be associated with hypertension.
Rare exceptions may include the presence of a balanced translocation of the X chromosome in a parent, or where the mother has 45,X mosaicism restricted to her germ cells. Women with Turner syndrome are also at increased risk of developing weak, brittle bones osteoporosis.
There is partly or completely missing of an X chromosome.
He is very shy and teachers report his behavior to be immature. Uterus, vagina, vulva present, the absence of menstruation.
Even though many women who have Turner have non-functioning ovaries and are infertile, their vagina and womb are totally normal.
Missing one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome. This includes bicuspid aortic valve and coarctation narrowing of the aorta. They show some abnormal features such as enlarged breasts, underdeveloped body hair, and small testes and prostrate glands.
The natural history of aortic root dilatation is still unknown, but it is Turner and klinefelter syndrome to aortic dissection and rupture, which has a high mortality rate. Research shows a possible association between age at diagnosis and increased substance use and depressive symptoms.
They may also suffer from cardiovascular disease and other hormonal problems.
These symptoms are sometimes noticed at the time of puberty. The fetuses are often severely hydropic Figure 1. Whether aortic root diameters that are relatively large for body surface area but still well within normal limits imply a risk for progressive dilatation remains unproven. A tendency to develop high blood pressure so this should be checked regularly.
You Might Also Like: His testes and penis are small and there is no evidence of pubertal development. While the majority of this additional X chromosome is inactivated, there are pseudoautosomal genes which remain active on the inactivated X chromosome.
But in rare cases, a male is born with an extra X chromosome XXY. However, its relative risk is in comparison with the general population.
Testes, ovary absent or poorly developed.
Skeletal[ edit ] Normal skeletal development is inhibited due to a large variety of factors, mostly hormonal. A small percentage of females with Turner syndrome have a part of one X chromosome in a ring formation. In adults, possible characteristics vary widely and include little to no sign of affectedness, a lankyyouthful build and facial appearance, or a rounded body type with some degree of gynecomastia increased breast tissue.
This is Klinefelter syndrome. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects. A 7 year old female presents for a school physical.
Girls with Turner Syndrome are usually of normal intelligence with good verbal skills and reading skills. This condition occurs in about 1 in 2, female births worldwide, but is much more common among pregnancies that do not survive to term miscarriages and stillbirths.
Estrogen therapy does not make a woman with nonfunctional ovaries fertile, but it plays an important role in assisted reproduction; the health of the uterus must be maintained with estrogen if an eligible woman with Turner Syndrome wishes to use IVF using donated oocytes.
Usually, females have two X chromosomes XX. In addition to the symptoms teenagers show, men may have: Problems with the growth and development of bones increase the risk of abnormal curvature of the spine scoliosis and forward rounding of the upper back kyphosis.
This syndrome occurs rarely, that is around 1 in births. Ear infections and hearing loss High waist-to-hip ratio the hips are not much bigger than the waist Attention deficit hyperactivity disorder problems with concentration, memory, attention with hyperactivity seen mostly in childhood and adolescence Nonverbal learning disability problems with maths, social skills, and spatial relations Other features may include a small lower jaw micrognathiacubitus valgus soft upturned nails, palmar crease, and drooping eyelids.
Additional chromosomal material can contribute to cardiac, neurological, orthopedic, and other anomalies.Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
High Blood Pressure Hypertension. Turner syndrome affects only females as the result of a missing or partially missing X chromosome, causing a variety of medical and developmental problems.
Klinefelter syndrome. Individuals with this syndromes are phenotypically males but with tendency towards femaleness. They show some abnormal features such as enlarged breasts, underdeveloped body hair, and small testes and prostrate glands.
Klinefelter syndrome (KS) also known as 47,XXY or XXY, Turner syndrome; XXYY syndrome; References Further reading. Virginia Isaacs Cover ().
Living with Klinefelter Syndrome, Trisomy X and 47,XYY: A Guide for Families and Individuals Affected by Extra. Turner syndrome is the dysgenesis in the female gonads, while Klinefelter syndrome is the male hypogonadism. These can be explained by saying that both the terms are problems related to the sex chromosomes, as in the earlier one there is lacking one of the sex chromosomes and so-called as monosomy (2n-1), while the latter consist of the extra sex chromosome and so-called as trisomy (2n+1).
Klinefelter syndrome is a genetic disorder that doesn’t have a cure, but most men who have it can live normal, healthy lives. Learn the causes, symptoms, and treatments.Download