06/10/09
First of I will explain what (CAH) Congenital adrenal hyperplasia is.
Congenital adrenal hyperplasia refers to a group of inherited disorders of the adrenal gland.
What is Congenital Adrenal Hyperplasia (CAH)?
CAH is a genetic defect of the adrenal glands. A person with CAH will not be able to produce several vital hormones known as corticosteriods. CAH is treated with hormone replacement, replacing one or both of the hormones missing, generally with Cortef and Florinef. Living with CAH requires extra attention to common illnesses and stress inducing situations (injury, exercise, etc.) and very good communication with your Endocrinologist. While this site is intended to provide information, support and education for people and families with CAH, your Endocrinologist must always be your primary source for medical information, and should always be consulted regarding any medical questions.
Congenital adrenal hypoplasia is a lethal disease unless promptly recognized and appropriately treated. With proper medical treatment, patients do well unless they are also affected with Duchenne muscular dystrophy. Glycerol kinase deficiency, if present, does not result in morbidity but results in hyperglycerolemia. This may be recognized by factitiously elevated serum triglyceride concentrations.
• When adrenal insufficiency is suspected, promptly obtain the following laboratory values:
o Electrolytes
o Blood sugar
o Serum adrenocorticotropic hormone (ACTH)
o Plasma-renin activity
o Serum cortisol
o Aldosterone
o 17-hydroxyprogesterone
o High-resolution karyotype
• Stress and illness
• One of the important physiological responses to stress is an increase in cortisol production mediated by ACTH. Patients with adrenal insufficiency, of whatever etiology, are unable to mount this response and must be provided with stress doses of glucocorticoids. In patients with minor illness (fever <38°C) administer at least double the dose of hydrocortisone. In patients with more severe illness (fever >38°C), administer triple the dose of glucocorticoids. If the patient is vomiting or listless, give parenteral glucocorticoids (hydrocortisone 50-75 mg/m2 intramuscularly or intravenously or equivalent of methylprednisolone or dexamethasone).
• Because hydrocortisone succinate has a short duration of action, the dose must be repeated every 6-8 hours until the patient is well. Cortisone acetate and hydrocortisone acetate both have a longer duration of action (up to 24 h) but are often difficult to obtain in the United States. All patients with adrenal insufficiency must have injectable glucocorticoid available, and the caretaker must be instructed in its use and importance.
• Hydrocortisone suppositories may be tried in patients or families who cannot administer injectable glucocorticoids. However, absorption is less predictable.
• No contraindications to glucocorticoid or mineralocorticoid replacement are recognized when it is needed, and few adverse drug-to-drug interactions occur.
• Patients on physiologic replacement doses of glucocorticoids may receive live virus immunizations.
Congenital adrenal hyperplasia can affect both boys and girls. People with congenital adrenal hyperplasia lack an enzyme needed by the adrenal gland to make the hormones cortisol and aldosterone.
Without these hormones, the body produces more androgen, a type of male sex hormone. This causes male characteristics to appear early (or inappropriately).
About 1 in 10,000 to 18,000 children are born with congenital adrenal hyperplasia.
Girls will usually have normal internal female reproductive organs (ovaries, uterus, and fallopian tubes). They may have the following external changes:
• Abnormal menstrual periods
• Genitals that look both male and female (ambiguous genitalia), often appearing more male than female
• Deep voice
• Early appearance of pubic and armpit hair
• Excessive hair growth and facial hair
• Failure to menstruate
Boys won't have any obvious problems at birth. However, they may appear to enter puberty as early as 2-3 years of age. Changes may include:
• Deep voice
• Early appearance of pubic and armpit hair
• Early development of masculine characteristics
• Enlarged penis
• Small testes
• Well-developed muscles
Both boys and girls will be tall as children but significantly shorter than normal as adults.
The goal of treatment is to return hormone levels to normal. This is done by taking a form of cortisol (dexamethasone, fludrocortisone, or hydrocortisone) every day. People may need additional doses of medicine during times of stress, such as severe illness or surgery.
The health care provider will determine the gender of a baby with ambiguous genitalia by checking the chromosomes (karyotyping). Girls with male-looking genitals will usually have surgery between ages 1 month - 3 months to correct the abnormal appearance.
Parents of children with congenital adrenal hyperplasia should be aware of the side effects of steroid therapy. Report signs of infection and stress to your health care provider because the child may need more medication. Steroid medications cannot be stopped suddenly, because it may lead to adrenal insufficiency.
People with this condition usually have good health. However, they may be shorter than normal, even with treatment.
Males have normal fertility. Females may have a smaller opening of the vagina and lower fertility.
People with this disorder must take medication their entire lives.
Untreated, adrenal crisis can lead to death within 1 - 6 weeks after birth.
I set up this Blog to write about my family. Our son was born with a rare
CAH (conjenital adreanal hyperplasia). I would wirte about his ongoing
medical and physical condition. I have set up a Donate Button for PayPal
all Donations will be put in a account for our son's ongoing medical expenses.
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