| 17-alpha-hydroxyprogesterone (17-ohp) - a 21-carbon steroid
produced by adrenals, ovaries, testes and placenta. 17 OHP is the metabolite of progesterone and
17-hydroxyprognenolone, and is a precursor to cortisol. (source) |
| 21-hydroxylase - an intermediary hormone produced as a part
of the bodies production of aldosterone and cortisol. Deficiency denotes Congenital Adrenal
Hyperplasia. (chart) |
| adrenal - adj 1: of or pertaining to the adrenal glands or
their secretions 2: near the kidneys n : either of a pair of complex endocrine glands situated
near the kidney. (source) |
| adrenal crisis - an abrupt, life-threatening state caused
by insufficient cortisol, a hormone produced and released by the adrenal gland. (source) |
| adrenal glands - triangular shaped glands located on top of
the kidneys. They produce hormones such as estrogen, progesterone, steroids, cortisol, and
cortisone, and chemicals such as adrenalin (epinephrine), norepinephrine, and dopamine. When the
glands produce more or less hormones than required by the body, disease conditions may
occur. (source) |
| aldosterone - a steroid hormone produced by the adrenal
cortex, that controls salt and water balance in the kidney. Abnormally high levels of this
hormone cause sodium retention, high blood pressure, heart rhythm irregularities and possibly
paralysis . (source) |
| ambiguous genitalia - a congenital physical abnormality
where the outer genitals do not have the typical appearance of either sex. (source) |
| androgens - a class of sex hormones associated with the
development and maintenance of the secondary male sex characteristics, sperm induction, and
sexual differentiation. In addition to increasing virility and libido, they also increase
nitrogen and water retention and stimulate skeletal growth. (source) |
| clitoroplasty - Any plastic surgery procedure on the
clitoris. (source) |
| congenital - existing at and usually before, birth,
referring to conditions that are present at birth, regardless of their causation. (source) |
| cortef - a steroid drug. It is similar to cortisone, which
is made in the adrenal glands. The drug has anti-inflammatory effects in the body which is the
desired action. (source) |
| cortisol - the major adrenal glucocorticoid, stimulates
conversion of proteins to carbohydrates, raises blood sugar levels and promotes glycogen storage
in the liver. (source) |
| cystourethrogram - a special X-ray study which allow
visualisation of the bladder and urethra on X-ray. A catheter is placed into the urethra,
through which a radio-opaque contrast material is injected. Subsequent X-rays will show the
anatomy of the bladder and urethra. (source) |
| dexamethasone - steroid analogue (glucocorticoid), used as
an anti-inflammatory drug. (source) |
| endocrinology - the scientific study of the function and
pathology of the endocrineglands (for example the thyroid gland, pituitary gland, etc.) (source) |
| endocrinologist - a medically qualified specialist in
internal medicine who has subspecialised in the diseases of glandular organs for example
diabetes mellitus. (source) |
| florinef - a medication that is used to decrease potassium
in the blood. Also called fludrocortisol and fludrocortisone acetate(source) |
| fludrocortisone acetate - see florinef |
| glucocorticoid - corticosteroid substances (drugs or
hormones) that are involved in carbohydrate metabolism by promoting gluconeogenesis and the
formation of glycogen at the expense of lipid and protein synthesis. They are steroid based and
possess anti-inflammatory and immunosuppressive properties. Glucocorticoids are also produced
normally by the adrenal cortex and provide for the response to stress. (source) |
| hermaphrodite - (Not applicable to Congenital Adrenal
Hyperplasia) An organism which has both male and female organs, and produces both male gametes
(sperm) and female gametes (eggs). The organism can have both types of organs at the same time
(simultaneous hermaphrodite) or have one type early in life and the other type later in life
(sequential hermaphrodite). (source) |
| hydrocortisone - the main glucocorticoid secreted by the
adrenal cortex. Its synthetic counterpart is used, either as an injection or topically, in the
treatment of inflammation, allergy, collagen diseases, asthma, adrenocortical deficiency, shock,
and some neoplastic conditions. (source) |
| hyperplasia - the abnormal multiplication or increase in
the number of normal cells in normal arrangement in a tissue. (source) |
| hydroxylase - a type of enzyme which adds -OH groups to its
substrate during hydroxylation reactions by attaching oxygen atoms to it. (source) |
| hyperkalemia - A condition caused by higher than normal
level of potassium in the bloodstream. (source) |
| hyponatremia - a disorder of fluid and electrolyte balance
caused by excessive release of antidiuretic hormone (ADH). Also known as Dilutional
hyponatremia and Syndrome of Inappropriate Secretion of Antidiuretic Hormone (SIADH). (source1, source2) |
| intersex - (Not applicable to Congenital Adrenal
Hyperplasia) Relating to or characterized by the condition of having both male and female
characteristics; being intermediate between the sexes. (source) |
| karyotype - the complete set of chromosomes of a cell or
organism. Used especially for the display prepared from photographs of mitotic chromosomes
arranged in homologous pairs. (source) |
| late onset CAH - a non-classical CAH which occurs in
approximately 1 out of 100 people, and as high as 1 in 27 in some ethnic populations. Presents
later into infancy, or can even be acquired in adulthood. (source) |
| metabolite - Any substance produced or used during
metabolism (digestion). In drug use, a metabolite usually refers to the end-product (what is
remaining after metabolism). (source) |
| prednisolone - A glucocorticoid with the general properties
of the corticosteroids. It is the drug of choice for all conditions in which routine systemic
corticosteroid therapy is indicated, except adrenal deficiency states. Pharmacological action:
steroidal anti-inflammatory agents, antineoplastic agent, hormonal, glucocorticoids, synthetic.
Chemical name: Pregna-1,4-diene-3,20-dione, 11,17,21-trihydroxy-, (11beta)- (source) |
| prednisone - Synthetic corticosteroid with powerful
anti-inflammatory and antiallergic activity. (source) |
| pregnenolone - a precursor hormone synthesized from
cholesterol, principally in the adrenal glands, but also in the liver, skin, brain, testicles,
ovaries, and retina of the eyes. Also called pregenolone (source) |
| progesterone - female sex hormone that induces secretory
changes in the lining of the uterus essential for successful implantation of a fertilized egg. (source) |
| proximal hypospadias - an abnormality of anterior urethral
development in which the urethral opening is ectopically located on the ventrum of the penis
proximal to the tip of the glans penis. The opening may be as proximal as the scrotum or
perineum. The more proximal the urethral defect, the more likely the penis will have associated
ventral shortening and curvature, called chordee. (source) |
| mineralocorticoids - A group of hormones (the most
important being aldosterone) that regulate the balance of water and electrolytes (ions such as
sodium and potassium) in the body. The mineralocorticoid hormones act on the kidney (and
specifically on the tubules of the kidney). (source) |
| virilization - The process of developing masculine sex
characteristics in a female. May include an increase in body hair, facial hair, deepening of the
voice, male-pattern baldness, and clitoral enlargement. May result from excessive testosterone
production in endocrine glands or use of anabolic steroids. (source) |
