congenital adrenal hyperplasia…

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aldosterone level test, adrenogenital syndrome, 21-hydroxylase deficiency, congenital adrenal hyperplasia, a group of inherited disorders relating, adrenal glands, characterized by a deficiency, in the hormones cortisol, aldosterone, an overproduction of androgen, different types of adrenogenital syndrome, inherited, autosomal recessive diseases, affect both boys, girls, defect, lack of an enzyme needed by the adrenal gland to make the major steroid hormones, the adrenal cortex, cortisol, aldosterone, hormones, steroids, 'diverted' to becoming androgens, a form of male sex hormones, inappropriate, appearance of male characteristics, newborn girl, clitoris is enlarged, the urethral opening, ambiguous genitalia, appearing more male than female, internal structures, the reproductive tract, ovaries, uterus, fallopian tubes, grows older, masculinization of some features takes place, deepening, the voice, appearance of facial hair, failure to menstruate at puberty, newborn boy no obvious abnormality is present, puberty, occurs, child becomes increasingly muscular, penis enlarges, pubic hair appears, voice deepens, males, appear to enter puberty, 2-3 years of age, at puberty, testes, forms of congenital adrenal hyperplasia, more severe, adrenal crisis, in the newborn, due to salt wasting, in this salt-losing form of congenital adrenal hyperplasia, newborns develop symptoms shortly after birth, vomiting, dehydration, electrolyte changes, cardiac arrhythmias, untreated, lead to death, 1-6 weeks after birth, 1 in 10,000 to 18,000 children, born, congenital adrenal hyperplasia, in girls, ambiguous genitalia, early appearance of pubic, axillary, armpit, hair, excessive hair growth, deep voice, abnormal menstrual periods, failure to menstruate, in boys, early development of masculine characteristics, well-developed musculature, enlarged penis, small testes, early appearance of pubic, axillary hair, boys, girls, tall, children but significantly shorter than normal, adults, decreased aldosterone, cortisol in blood, elevated urinary 17-ketosteroids, decreased urinary 17-hydroxycorticosteroids, elevated 17-oh progesterone in blood, elevated serum dhea sulfate, x-ray, bone age, demonstrates markedly advance bone age, above chronological age, abnormal salt levels, in blood, serum electrolytes, in urine, genetic testing, in diagnosing, confirming the disease, useful, in the management, tests, pregnanediol, estriol, urine, estriol, serum, goal of treatment, return hormone levels to normal, achieved by daily administration of forms of cortisol, dexamethasone, fludrocortisone, hydrocortisone, additional doses of medicine, times of stress severe illness, surgery, gender of a baby, ambiguous genitalia is determined by examination, the chromosomes, karyotyping, reconstructive surgery, girls, masculine external genitalia, performed between the ages of 1 and 3 months, the abnormal appearance, parents of children, disorder need instruction on the side effects of steroid therapy, should report signs of infection, stress to health care provider, increases in medication required, steroid medications cannot be stopped suddenly, adrenal insufficiency, national adrenal diseases foundation, cares, congenital adrenal hyperplasia research, education, foundation, caresfoundation, com, outcome, associated, good health, short stature, males have normal fertility, females, smaller opening, the vagina, lower fertility, medication to treat this disorder must be continued, adrenal crisis, hyponatremia, shock, in newborns, abnormal female external genitalia, internal organs, early development of male sexual characteristics, short adult stature despite early, rapid childhood growth, tumors, the testes in adult men, high blood pressure, low blood sugar, side effects of corticosteroids used, child develops symptoms of this disorder, had a child, family history of this disease, plan to have other children, should discuss this, conceiving a child, genetic counseling is important, history of congenital adrenal hyperplasia, genetic counseling is indicated, parents, a family history of congenital adrenal hyperplasia, type, a family, a child who has the condition, prenatal diagnosis is available, forms of congenital adrenal hyperplasia, diagnosis is made, in the first trimester by chorionic villus sampling, second trimester by measuring hormones 17-hydroxyprogesterone, in the amniotic fluid, a newborn screening test is available, the most common form of congenital adrenal hyperplasia, done on heelstick blood, the routine screenings done on newborns, test is not yet widely available.