Glossary
Print PageYou may hear these terms discussed in reference to yourself, your spouse, or your daughter:
Alfa-fetoprotein (AFP): A tumor marker for certain cancers of the testes and ovaries. Adults should have less than 15 nanograms of alfa-fetoprotein per milliliter of blood.
Anosmia: Lacking all sense of smell, common in children with genetic disorders affecting the sex glands.
Azoospermia: The ejaculate contains no sperm at all.
ßhCG: Pregnant women excrete this pregnancy hormone 10 days after conception. Males with carcinoma of the testicles excrete this hormone. Normal males never excrete Beta HCG. If you had an orchiectomy (removal of the testicles) but are still excreting Beta HCG, then there is residual cancer that must be removed.
CA-15-3: Cancer Antigen 15-3, which is elevated in 3⁄4 of patients with metastatic breast cancer.
CA-549: Cancer Antigen 549 is elevated in half of patients with advanced breast cancer.
Cryptorchidism: Undescended testicles. One or both testes stay in the abdominal cavity as they are before birth, instead of entering the scrotum. The doctor can try to manipulate the testes down into the scrotum, or can move them surgically if manipulation fails. It is dangerous to leave the testes in the abdomen, as it increases the risk of testicular cancer. The testes need to be kept cool in the scrotum to produce sperm. The intense core heat of the abdomen kills sperm.
Eunuchoid: A male born infertile who is extremely tall because his bone ends do not fuse due to delayed puberty and continue growing, with long, slender limbs, little or no beard growth, and high-pitched voice.
Fibrosis: Scar tissue replaces healthy tissue as a result of degeneration, injury, or infection.
Genotype: Genetic makeup, as opposed to appearance.
Gonadotropin levels: The pituitary gland secretes a group of hormones called gonadotropins, which stimulate the testicles and ovaries. Boys with Klinefelter syndrome possess at least one extra X chromosome(s), which usually causes their pituitary glands to produce too much of the gonadotropins FSH (follicular stimulating hormone) and LH (luteinizing hormone). FSH and LH suppress the testicles’ normal function. Drs. S.K. Advani, M.D. Chadh, and N.M. Khan, endocrinologists in Bombay, reported examining two men in their twenties with 47XXY Klinefelter syndrome who did not have elevated FSH and LH. These doctors suggest all males with suspected Klinefelter syndrome should have a karyotype performed before starting therapy with hCG. If the karyotype test result shows 47 XXY and the serum gonadotropin levels are not elevated, then the males should undergo detailed imaging studies of their pituitary-hypothalamic complexes.
Gynecomastia: Enlargement of one or both male breasts, sometimes with milk production. This is not pubertal hypertrophy, where a tender disc of enlarged tissue forms under the boy’s nipple and disappears within a year. Causes of gynecomastia include: Klinefelter syndrome; hormone imbalance; weight gain; taking steroids or estrogen; cirrhosis of the liver; tumor in the testicles, breast, or lung. Gynecomastia should always be evaluated by a doctor.
Hyalinized: Healthy tissue is replaced by hyaline (clear or translucent white, glassy collagen fibers) due to degeneration.
Hypospadias: A birth defect where the boy’s urethra opens onto the underside of the penis or below it, instead of the end of the glans.
Hypothalamus: The section of the brain that regulates body temperature, chemical balance, the pituitary gland, and the autonomic nervous system. The hypothalamus is part of the limbic system, so it regulates sexual appetite, eating, sleep, and emotions. It influences heart and breathing rates and blood pressure. The hypothalamus is located in the grey matter, below the thalamus, in the center of the brain. The pituitary gland hangs on a stalk below the hypothalamus.
Karyotype: Number, form, and size of chromosomes.
Mastectomy: Surgical removal of the breast.
Oligospermia: The ejaculate contains fewer sperm than normal.
Osteoporosis: Bones that are brittle and break easily due to lack of calcium and sex hormones.
Phenotype: The physical characteristics of the boy comprised of his genetic makeup and his environment.
Pituitary gland: Connected to the hypothalamus, the pituitary controls growth hormone, prolactin for milk production, and follicle stimulating hormone (FSH) to stimulate testes. The pituitary stimulates the adrenal glands and the thyroid.
Seminiferous tubules: Two or three convoluted tubes in the testicles, where sperm are made.
Virilize: Encourage formation of male secondary sexual characteristics, such as beard growth, voice deepening, and strong muscle growth.