condition that one is born with due to the lack of an enzyme needed by the adrenal gland. Normal products of the adrenal gland, therefore, are not produced; the body tries to stimulate the gland, and it enlarges (hyperplasia).
A genetic condition in which a female is born with genitals that look like a male's due to an abnormally functioning adrenal gland.
Newborns are screened for a defect in the enzyme – 21-hydoxylase. Early diagnosis and treatment has great benefit to the infant – Signs of the disease if not treated include hyponatremia, hypokalemia, hypoglycemia, dehydration and early death; ambiguous genitalia in females and progressive virilization in both sexes. Treatment will prevent adrenal crises, persistent virilization and adult short stature due to androgen effect of premature skeletal maturation. Plastic surgery corrects ambiguous genitalia in female. (Prevalence (1:16,000 to 1:17,000; 1:3,000 Native Eskimo)
An inherited disorder of the adrenal glands resulting in insufficient cortisol production.
A group of inherited disorders in which deficiencies of enzymes that catalyze the biosynthesis of cortisol result in compensatory hypersecretion of adrenaocorticotropic hormone and subsequent abnormal increase in the number of cells in the adrenal glands and excessive androgen production.
A condition in which a genetic female has an abnormally functioning adrenal gland that produces an excess of androgens so that she is born with genitals that look like a male's. Also called adrenogenital syndrome. (page 111)
is a common inherited form of adrenal insufficiency. this group of diseases is due to mutations (genetic defects) in the genes coding for several enzymes needed for the production of adrenal cortex hormones. about 95% of cases of cah are caused by 21-hydroxylase deficiency. this enzyme is necessary for efficient production of two vital adrenal steroid hormones: cortisol and aldosterone. deficient production of these substances causes disruption in the delicate balance of hormones.
A congenital condition characterized by elevated androgens which suppress the pituitary gland and interfere with spermatogenesis or ovulation. Women may have ambiguous genitalia from the excess production of male hormone.
An inherited genetic disorder that causes an enzyme deficiency which results in the inability of the adrenal glands to make hormones that are essential to maintain certain life functions. The three different types of this disorder are severe salt wasting, severe non-salt wasting, and a milder form of both.
Also known as CAH. A genetic disorder characterized by a deficiency in the hormones cortisol and aldosterone and an over-production of the hormone androgen, which is present at birth and affects sexual development.
(CAH) Enlargement and abnormal function of the adrenal glands, usually from before birth, owing to a genetically determined, partial block in the production of cortisol, the adrenal glands' main hormone, resulting in overproduction of subsidiary hormones, including androgens, tending to virilise the female fetus, which can present at birth with intersex. In mild forms does not manifest until puberty, when the symptoms of oligomenorrhea and hirsutism mimic those of polycystic ovary syndrome. See also serum 17-hydroxyprogesterone.
A rare cause of male factor infertility, CAH involves congenital deficiencies in certain enzymes, resulting in abnormal hormone production. CAH is usually diagnosed by demonstrating excess steroids in the blood and urine. When treated successfully with hormone replacement, sperm production increases.
Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from defects in steps of the synthesis of cortisol from cholesterol by the adrenal glands. Most of these diseases involve excessive or deficient production of sex steroids and can pervert or impair development of primary or secondary sex characteristics in affected infants, children, and adults. Only a small minority of people with CAH can be said to have an intersex condition, but this attracted American public attention in the late 1990s and many accounts of varying accuracy have appeared in the popular media.
