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Diseases » Turner Syndrome » Glossary

Glossary for Turner Syndrome

  • Aortic dissection: A tear in the inner layer of the aorta (major artery in the body) which allows blood to escape into outer layers of the artery.
  • Aortic valve disease: Disease of the heart's aortic valve
  • Atrial Septal Defect: An abnormal connection between the 2 atria, or upper chambers of the heart
  • Bicuspid aortic valve: A heart defect where the aortic valve has only two leaflets instead of the normal three. The severity of the disorder is variable.
  • Blepharoptosis: Droopy upper eyelid. The condition may be caused by such things as stroke, brain tumor, diabetes and myasthenia gravis.
  • Bone symptoms: Symptoms affecting the body's bones
  • Delayed puberty: A lack of sexual maturation in an adolescent at an age significantly higher than the average age that child of that epidemiology attains puberty.
  • Depression: Various syndromes with excessive anxiety, phobias, or fear.
  • Dysarthria: Dysarthria is a motor speech disorder characterized by difficulty forming and expressing words that is the result of injury to or pathology of the nervous system.
  • Failure To Thrive: Slow growth or inadequate weight gain of an infant or child.
  • Female infertility: Infertility that affects the female
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Gonadal dysgenesis: The abnormal development of gonads which means that the sex hormones are not being produced. The gonads are the primary reproductive organs - testes in males and ovaries in females. These organs produced sperm and eggs as well as sex hormones - testes produce the male hormone called testosterone and ovaries produce the female hormone called estrogen. Abnormal gonad development and hence lack of sex hormones can affect sexual differentiation between males and females and puberty may be delayed or fail to occur altogether.
  • High arched palate: A condition where the roof of the mouth is higher in the mouth than normal.
  • Hirsutism: Increased hairiness
  • Hypertension: High blood pressure
  • Hypoaldosteronism: Reduced aldosterone levels. One of the functions of aldosterone is to regulate salt levels in the body.
  • Infertility: The inability to produce offspring
  • Inflammatory bowel disease: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable.
  • Intersex conditions: When the sex of an individual is not clear and may comprise characteristics of both sexes
  • Madelung deformity: The abnormal growth of the end of the forearm bone (radius) which results in wrist pain and deformity. The severity of the disorder is variable with only severe cases requiring surgical intervention.
  • Missing testicle: Absence of a testicle
  • Mitral valve disease: Any disease that affects the mitral valve
  • Osteoporosis: Bone thinning and weakening from bone calcium depletion.
  • Primary hypothyroidism: Primary hypothyroidism is a condition in which a defect in the thyroid gland leads to reduced production of thyroid hormone.
  • Pulmonary valve stenosis: Often a congenital defect but may be caused by such things as rheumatic fever or bacterial endocarditis. Severity depends on the degree of narrowing of the pulmonary valve.
  • Self-esteem symptoms: Poor self image or self-esteem.
  • Sex chromosome conditions: Any condition that affects the sex chromosomes
  • Tuberous sclerosis: A rare genetic disorder characterized by harmartomatous skin nodules, seizures, phakomata and bone lesions.
  • Ventricular septal defect: An abnormal connection between the 2 lower chambers (ventricles) of the heart.
  • Webbed neck: occurs in congenital malformations
  • Women-only conditions: Conditions affecting women (females), but not males.
  • Womens health conditions: Medical conditions related to women's health.
  • X Chromosome Disorders: Any condition that affects the x chromosome of an individual


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