Klinefelter syndrome, also referred to as XXY condition, is a genetic disease. Klinefelter syndrome affects mostly males. Symptoms include decreased testosterone levels, development of breasts, wider hips, and infertility. Some men with Klinefelter syndrome have no symptoms. Treatment includes educational, therapeutic, and medical therapy.
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Low testosterone can affect both men and women. Causes of low testosterone in males include undescended testicles and injury to the scrotum. Low testosterone in females includes ovary conditions. Treatment for low testosterone in men includes testosterone replacement therapy. Currently there is no FDA approved testosterone treatment for women.
Down syndrome is a chromosomal disorder that results in the presence of an additional third chromosome 21, also referred to as trisomy 21. Most individuals with Down syndrome have widely recognizable physical characteristics. The severity of Down syndrome ranges from mild to severe. Diagnostic testing for Down syndrome include amniocentesis, chorionic villus sampling, and percutaneous umbilical cord sampling. The most common risk factor for Down syndrome is a woman's age.
Turner syndrome is an inherited chromosomal condition affecting women. Women with Turner syndrome do not have ovarian function, and features of the syndrome include webbed neck, lymphedema of the hands and feet, heart defects, kidney problems, and skeletal abnormalities. The X chromosome is related to Turner syndrome. Treatment focuses on the symptoms of the syndrome.
Male breast cancer accounts for 1% of all breast cancers, and most cases are found in men between the ages of 60 and 70. A man's risk of developing breast cancer is one in 1,000. Signs and symptoms include a firm mass located below the nipple and skin changes around the nipple, including puckering, redness or scaling, retraction and ulceration of the nipple. Treatment depends upon staging and the health of the patient.
Gynecomastia, an enlargement of the gland tissue in the male breast is the caused by an imbalance of hormones. Certain medical conditions may also lead to gynecomastia such as cirrhosis, malnutrition, disorders of the male sex organs, kidney failure, thyroid disorders, and medications. Gynecomastia is generally treated with medication, and if necessary surgery.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Birth defects have many causes and currently, are the leading cause of death for infants in the first year of life. Some of the causes of birth defects include genetic or chromosome problems. Exposure of the mother to rubella or German measles during pregnancy, or using drugs or alcohol during pregnancy. The treatment for birth defects depends upon the condition of the effected child.
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