A chromosomal disorder affecting only males in which there is at least one extra X CHROMOSOME. The normal chromosomal configuration for a male is XY; the female configuration is XX. The extra X chromosome in a male, which doctors commonly designate as 47 XXY, dilutes the SECONDARY SEXUAL CHARACTERISTICS. Men who have Klinefelter’s syndrome often do not produce SPERM and thus are infertile (unable to cause PREGNANCY).
Klinefelter’s syndrome often does not become apparent until a boy enters (or fails to enter) PUBERTY. Secondary sexual characteristics are slow to develop and may appear effeminate, with small GENITALIA, enlarged breasts (GYNECOMASTIA), and little facial HAIR. LEARNING DISORDERS are also common in boys who have Klinefelter’s syndrome, though researchers are uncertain of the reason for this. Adult men often experience SEXUAL DYSFUNCTION such as low LIBIDO, ERECTILE DYSFUNCTION, and INFERTILITY.
The diagnostic path includes BLOOD tests to measure the levels of TESTOSTERONE, LUTEINIZING HORMONE (LH), and FOLLICLE-STIMULATING HORMONE (FSH). Karyotyping, a representation of the chromosomal configuration of the cells, shows the extra X chromosome (and in some men, more than one extra X chromosome). Treatment is TESTOSTERONE supplementation to restore to normal the level of testosterone in the blood circulation. Testosterone supplementation generally results in increased masculinization (appearance of secondary sexual characteristics) such as thickened beard growth, deepened voice, enlarged PENIS and TESTICLES, and increased MUSCLE mass and definition. Treatment is generally lifelong.
Resource: Facts On File Encyclopedia Of Health And Medicine
What is Abortion procedure The end of a PREGNANCY before the FETUS is viable (capable of independent life). Abortion may occur spontaneously (commonly called miscarriage) or be induced to end a pregnancy. In the United States, federal law mandates the availability of induced abortion, and state laws regulate the definition of viability as it applies to
What is Adenomyosis A condition in which the cells that make up the endometrium (the lining of the UTERUS) grow into the wall of the uterus (myometrium), forming benign (noncancerous) tumors that appear as thickenings or masses contained within the uterine wall. Adenomyosis nearly always occurs in women who have carried pregnancies to full term, causing
What is Child Adoption Accepting or relinquishing legal, social, and family responsibilities for a nonbiologic child. Adoption is an option within FAMILY PLANNING for people who desire children. Placing a child for adoption also an option in a circumstance of an unplanned PREGNANCY. About 150,000 adoptions take place in the United States each year.
The reproductive system, male or female, is intact but immature at birth and remains immature until the onset of PUBERTY around age 12. Researchers do not know what triggers the physiologic events that take place to initiate reproductive and sexual maturity. However, these events result in the development of SECONDARY SEXUAL CHARACTERISTICS, sex drive and
What is Alpha fetoprotein (AFP) A protein the LIVER produces. In PREGNANCY the amount of AFP in the woman’s BLOOD circulation increases, reflecting the activity of the FETUS’s liver as it develops and becomes functional. A blood test measures AFP in the woman’s blood circulation early in the second trimester, between 15 and 22 weeks of
What is Amenorrhea and Definition Amenorrhea - The absence of menstrual periods. Primary amenorrhea occurs when a young woman does not begin menstruating by age 16; secondary amenorrhea occurs in women who have been menstruating and then stop (miss six or more consecutive periods).
What is Amniocentesis procedure / test Amniocentesis is a diagnostic procedure to withdraw a sample of AMNIOTIC FLUID from the UTERUS of a pregnant woman to obtain information about the health status of the FETUS. Obstetricians use amniocentesis, typically performed during the second trimester of PREGNANCY, to help diagnose GENETIC DISORDERS and health
What is Amniotic Fluid Amniotic Fluid - The liquid that surrounds the developing FETUS within the amniotic sac, a membranous structure that forms inside the UTERUS in PREGNANCY. The amnion, the inner membrane of the amniotic sac, begins producing amniotic fluid at about two weeks of gestation. The amniotic fluid, which is mostly water, cushions the fetus
What is Andropause in Men and Symptoms Andropause - a term sometimes used to describe the physical and emotional changes men experience at midlife. The amount of TESTOSTERONE, the primary male sex HORMONE, in a man’s BLOOD circulation begins to slowly and steadily decline after reaching its peak in the early to middle 20s. By age 75, testosterone
What is Apgar score and Definition Apgar score - A standardized measure of an infant’s health status, typically assessed one minute and five minutes after birth. Anesthesiologist Virginia Apgar (1909–1974) developed the scoring system that bears her name in 1953, assigning a point value of 0, 1, or 2 to each of five categories of vital function