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Turner syndrome

Turner syndrome or Ullrich-Turner syndrome (also known as "Gonadal dysgenesis”) encompasses several conditions, of which monosomy X (absence of an entire sex chromosome, the Barr body) is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent (unaffected humans have 46 chromosomes, of which two are sex chromosomes). Typical females have two X chromosomes, but in Turner syndrome, one of those sex chromosomes is missing or has other abnormalities. In some cases, the chromosome is missing in some cells but not others, a condition referred to as mosaicism[2] or 'Turner mosaicism'.
Occurring in 1 out of every 2500 girls,
There are characteristic physical abnormalities, such as short stature, swelling, broad chest, low hairline, low-set ears, and webbed necks
Girls with Turner syndrome typically experience gonadal dysfunction (non-working ovaries), which results in amenorrhea (absence of menstrual cycle) and sterility. Concurrent health concerns are also frequently present, including congenital heart disease, hypothyroidism (reduced hormone secretion by the thyroid), diabetes, vision problems, hearing concerns, and many autoimmune diseases.[4] Finally, a specific pattern of cognitive deficits is often observed, with particular difficulties in visuospatial, mathematical, and memory areas
Common symptoms of Turner syndrome include:
• Short stature
• Lymphedema (swelling) of the hands and feet
• Broad chest (shield chest) and widely spaced nipples
• Low hairline
• Low-set ears
• Reproductive sterility
• Rudimentary ovaries gonadal streak (underdeveloped gonadal structures)
• Amenorrhoea, or the absence of a menstrual period
• Increased weight, obesity
• Shield shaped thorax of heart
• Shortened metacarpal IV
• Small fingernails
• Characteristic facial features
• Webbed neck from cystic hygroma in infancy
• Coarctation of the aorta
• Bicuspid aortic valve
• Poor breast development
• Horseshoe kidney
• Visual impairments sclera, cornea, glaucoma, etc.
• 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 and attention)
• Nonverbal Learning Disability (problems with math, social skills and spatial relations)
Women with Turner syndrome are almost universally infertile. While some women with Turner syndrome have successfully become pregnant and carried their pregnancies to term, this is very rare and is generally limited to those women whose karyotypes are not 45,X.[18][19] Even when such pregnancies do occur, there is a higher than average risk of miscarriage or birth defects, including Turner Syndrome or Down Syndrome.[20] Some women with Turner syndrome who are unable to conceive without medical intervention may be able to use IVF or other fertility treatments.[21]
Klinefelter's syndrome
Klinefelter's syndrome, 47, XXY, or XXY syndrome is a condition in which human males have an extra X chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosomes and at least one Y chromosome.[1] Because of the extra chromosome, individuals with the condition are usually referred to as "XXY Males", or "47, XXY Males".[2]
In humans, Klinefelter's syndrome is the most common sex chromosome disorder[3
The condition exists in roughly 1 out of every 1,000 males. One in every 500 males has an extra X chromosome but does not have the syndrome.[4] Other mammals also have the XXY syndrome, including mice
The principal effects are development of small testicles and reduced fertility. A variety of other physical and behavioral differences and problems are common, though severity varies and many boys and men with the condition have few detectable symptoms.
Affected males are almost always effectively infertile, although advanced reproductive assistance is sometimes possible.
The term hypogonadism in XXY symptoms is often misinterpreted to mean "small testicles" or "small penis".
Males with Klinefelter syndrome may have a mosaic 47,XXY/46,XY constitutional karyotype and varying degrees of spermatogenic failure. Mosaicism 47,XXY/46,XX with clinical features suggestive of Klinefelter syndrome is very rare. Thus far, only about 10 cases have been described in literature.[20]