Turner Syndrome or Ullrich-Turner syndrome (a.k.a Gonadal dysgenesis) is a chromosomal abnormality in females in which part of the sex chromosomes or all  is absent (unaffected humans have 46 chromosomes, two are sex chromosomes). In some cases, turner mosaicism or mosaicism occurs wherein the chromosome is missing in some cells but not in others. About 1 in every 2500 newborn babies has turner syndrome and according to study, monosomy x is present in nearly 3% of all conceptions and around 99% of affected babies are stillborn or miscarriages. This syndrome has characteristic physical abnormalities. This includes short stature, broad chest, swelling, low-set ears, low hairline and webbed necks (variation of skin folds on the neck). Women with turner syndrome typically experience gonadal dysfunction which results in amenorrhea (absence of menstruation) and even sterility. 

 Every diseases or illnesses have different symptoms and sometimes they even have unique characteristics. They vary from simple to more complex symptoms or from simple to life threatening conditions. Common symptoms of turner syndrome includes broad chest with widely spaced nipples, lymphedema (swelling) of the hands and feet, reproductive sterility, rudimentary ovaries gonadal streak (underdeveloped gonadal structures), amenorrhea (absence of menstruation), small fingernails, increased weight (obesity), shield shape thorax of the heart, poor breast development, coarctation of the aorta, bicuspid aortic valve, visual impairments, ear infections and a possible hearing loss, high waist-to-hip ratio, ADHD (Attention Deficit Hyperactivity Disorder)- problems with concentration, memory and attention; nonverbal learning disability (problems with math, social skills and spatial relations) and shortened metacarpal IV. Other symptoms may include micrognathia (small lower jaw), palmar crease, ptosis (drooping of eyelids) and turned-out elbows (cubitus valgus). These syndromes have manifestations which are entirely different in each female affected and no two individuals will share the same symptoms.

 Risk factors for turner syndrome are not well known and genetic mosaicism is the most often implicated. These syndrome may be diagnosed with the used of amniocentesis (a medical procedure in which a sample of amniotic fluid is drawn out of the abdominal wall through needle insertion) during pregnancy and sometimes an unborn baby can be identified by an abnormal ultrasound findings (kidney abnormality and heart defect). Karyotype or chromosome analysis is the laboratory test of choice to diagnose turner syndrome.

 Individuals with turner syndrome have a hard time in getting pregnant or pregnancy is almost near to impossible. However, with the use of recent technology, it provides the opportunity of having a possible pregnancy. More women with turner syndrome completed their pregnancy because of the new modern techniques that treats infertility.

 Although pregnancy is attainable at this time, concerns regarding pregnancy may pose a risk of cardiovascular complications to the mother. Close surveillance and appropriate treatment is needed for patients having this condition.

 Since it is a chromosomal condition, there is no known cure for turner syndrome. However, there can be done to minimize the symptoms.

  1.  Estrogen replacement therapy – helps promote the development of secondary sex. Sex characteristics and are crucial for maintaining good bone integrity and tissue health.
  2.  Growth Hormone – alone or with low dose of androgen will increase growth and an adult height may be achievable.
  3.  Modern Reproductive technologies- a donor egg for example can be used to create an embryo, which is carried by a woman with this condition.

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