Glossary
Chromosomes - packages of genes found in every cell in the body. Two types of chromosome, called the sex chromosomes, determine the genetic sex of a baby. These are named either X or Y. Usually, a female baby has 2 X chromosomes (XX) and a male has one X and one Y (XY). But in Klinefelter syndrome, a boy is born with an extra copy of the X chromosome (XXY). The X chromosome is not a "female" chromosome and is present in everyone. The presence of a Y chromosome denotes male sex. Boys and men with Klinefelter syndrome are still genetically male, and often will not realise they have this extra chromosome, but occasionally it can cause problems that may require treatment. Klinefelter syndrome affects around 1 in every 660 males.
Signs - a sign is something found during a physical exam or as a result of a laboratory or imaging test that shows that a person may have a condition or disease.
Symptoms - something that a person feels or experiences that may indicate that they have a disease or condition. Symptoms can only be reported by the person experiencing them. They cannot be observed by a health care provider or other person and do not show up on medical tests.
Hormone - hormones are your body's chemical messengers. They travel in your bloodstream to tissues or organs. They work slowly, over time, and affect many different processes, including: Growth and development.
Type 2 diabetes - Type 2 diabetes is when a hormone called insulin does not work properly or there is not enough of it. This causes the level of glucose (sugar) in your blood to become too high. It affects adults and sometimes children.
Osteoporosis - Osteoporosis is a health condition that weakens bones, making them fragile and more likely to break.
Autoimmune - this describes a condition in which the body's immune system mistakes its own healthy tissues as foreign and attacks them.
Rheumatoid arthritis - this is a long-term condition that causes pain, swelling and stiffness in the joints. The condition usually affects the hands, feet and wrists.
SLE - this is a long-term condition that causes joint pain, skin rashes and tiredness.
Testosterone - testosterone is the male sex hormone that is made in the testicles. Testosterone hormone levels are important to normal male sexual development and functions. During puberty (in the teen years), testosterone helps boys develop male features like body and facial hair, deeper voice, and muscle strength.
Libido - sex drive or the desire for sex
Congenital - this refers to a condition or trait that exists at birth.
Endocrinology - the branch of medicine that cares for patients with hormone-related disease. The endocrine system involves the hormone-releasing glands. These include the pituitary, thyroid, parathyroid, pancreas, adrenals, ovaries and testicles.
Urology - the branch of medicine care that deals with diseases of the male and female urinary tract (kidneys, ureters, bladder and urethra).
Genetics - the study of how genes and how traits are passed down from one generation to the next. Our genes carry information that affects our health, our appearance, and even our personality!
Radiology - the branch of medicine that uses imaging technology to diagnose and treat diseases.
Psychosexual medicine - the branch of healthcare that focuses on the connection between psychological (mental/emotional) factors and sexual health or sexual functioning.
Psychology - Psychology is the scientific study of the mind and behavior. It examines how biological, social, and environmental factors influence how people think, act, and feel.
Neurodisability - an umbrella term for long-term conditions caused by problems in the brain, spinal cord, or nerves that affect movement, thinking, behavior, communication, or sensory function.
Paediatric - the branch of medicine that deals with the development and care of children and with the diagnosis and treatment of childhood diseases.
Ultrasound - an imaging test that uses sound waves to make pictures of organs, tissues, and other structures inside your body. It allows your health care provider to see into your body without surgery.
Microscopic testicular sperm extraction- Microsurgical testicular sperm extraction (microTESE) is a surgical procedure used to retrieve sperm from inside a man's testes (organs that produce sperm).