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Congenital adrenal hyperplasia refers to a group of inherited disorders of the adrenal gland.
Alternative NamesAdrenogenital syndrome; 21-hydroxylase deficiency
Causes, incidence, and risk factorsCongenital 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.
SymptomsGirls will usually have normal female reproductive organs (ovaries, uterus, and fallopian tubes). They may also have the following changes:
- Abnormal menstrual periods
- Deep voice
- Early appearance of pubic and armpit hair
- Excessive hair growth and facial hair
- Failure to menstruate
- Genitals that look both male and female (ambiguous genitalia), often appearing more male than female
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 male characteristics
- Enlarged penis
- Small testes
- Well-developed muscles
Both boys and girls will be tall as children but much shorter than normal as adults.
Some forms of congenital adrenal hyperplasia are more severe and cause adrenal crisis in the newborn due to a loss of salt. Newborns with these forms develop severe symptoms shortly after birth, including:
- Cardiac arrhythmias
- Dehydration
- Electrolytechanges
- Vomiting
- Abnormal salt levels in blood (serum electrolytes) and urine
- High levels of 17-OH progesterone
- High levels of serum DHEA sulfate
- High levels of urinary 17-ketosteroids
- Low levels of aldosterone and cortisol
- Normal or low urinary 17-hydroxycorticosteroids
- X-ray for bone age (shows older bones than normal for the person's age)
Genetic tests can help diagnose, confirm, and manage the disease.
This disease may also affect the results of the following tests:
- Estriol - serum
- Estriol - urine
- Pregnanediol
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.
Support Groups- National Adrenal Diseases Foundation: www.medhelp.org/nadf/
- The MAGIC Foundation: www.magicfoundation.org
- The CARES Foundation: www.caresfoundation.org
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.
Complications- Abnormal female external genitals (internal organs are normal)
- Adrenal crisis, including hyponatremia and shock (especially in newborns)
- Early development of male sexual characteristics
- High blood pressure
- Low blood sugar
- Short height as an adult, despite early, rapid childhood growth
- Side effects of steroid medications used as treatment
- Tumors of the testes in adult men
Call for an appointment with your health care provider if your child develops symptoms of this disorder.
If you had a child with this disorder or you have a family history of this disease and you plan to have other children, talk to your health care provider before conceiving. Genetic counseling is important if you have a family history of congenital adrenal hyperplasia.
PreventionParents with a family history of congenital adrenal hyperplasia (of any type) or a child who has the condition should consider genetic counseling.
Prenatal diagnosis is available for some forms of congenital adrenal hyperplasia. Diagnosis is made in the first trimester by chorionic villus sampling. Diagnosis in the second trimester is made by measuring hormones such as 17-hydroxyprogesterone in the amniotic fluid.
A newborn screening test is available for the most common form of congenital adrenal hyperplasia. It can be done on heelstick blood (as part of the routine screenings done on newborns). This test is currently performed in many states. Ask your doctor if it is done in your state.
ReferencesWhite PC. Congenital adrenal hyperplasia and related disorders. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 577.
What else can I help you with?
Can children play sport with congenital adrenal hyperplasia?
yes i think.
What Adrenal glands disorders do you get?
Some common adrenal gland disorders include Addison's disease, Cushing's syndrome, and congenital adrenal hyperplasia. Addison's disease is characterized by insufficient production of adrenal hormones, while Cushing's syndrome is marked by excessive levels of cortisol. Congenital adrenal hyperplasia involves a group of genetic disorders affecting the adrenal glands' ability to produce hormones like cortisol and aldosterone.
What condition do you have when your Adrenaline glands cause too much testosterone?
Congenital adrenal hyperplasia.
Who is the carrier in Congenital Adrenal Hyperplasia?
Congenital Adrenal Hyperplasia is an autosomal recessive disorder, which means that it typically requires both parents to pass on a copy of the faulty gene for a child to be affected. Carriers of the condition usually do not show symptoms themselves but can pass on the gene to their offspring.
Does congenital hyperplasia cause short stature?
Children with Congenital Adrenal Hyperplasia (CAH) typically reach an adult height that is well below those non affected. Treatment includes replacing the deficient hormones.
What are some of the common symptoms of congenital adrenal hyperplasia?
Symptoms of Congenital adrenal hyperplasia in girls is abnormal looking genitals including an enlarged clitoris. This condition is not always apparent in baby boys. Other symptoms include early puberty, irregular menstrual cycles, infertility, and rapid growth during childhood.
What is the cause of adrenal hyperplasia?
Adrenal hyperplasia is primarily caused by genetic mutations that affect the adrenal glands' ability to produce hormones. The most common form, congenital adrenal hyperplasia (CAH), is usually due to a deficiency in the enzyme 21-hydroxylase, leading to an imbalance in steroid hormone production. This results in excess androgens and can cause various symptoms, including ambiguous genitalia in newborns and precocious puberty. Other less common forms may involve different enzyme deficiencies or genetic factors affecting adrenal function.
What has the author Maria I New written?
Maria I. New has written: 'Congenital adrenal hyperplasia' -- subject(s): Adrenogenital syndrome, Pediatric endocrinology 'The Genetics of Endocrine Disorders (Contemporary Endocrinology)'
What is an abnormal condition of excess androgen secretion observed primarily in woman?
Excess androgen secretion may be related to polycystic ovarian syndrome, which affects one in twenty women. Another cause may be congenital adrenal hyperplasia.
How is adrenal virilism treated?
Adrenal virilism caused by adrenal hyperplasia is treated with daily doses of a glucocorticoid. Usually prednisone is the drug of choice, but in infants hydrocortisone is usually given
Who discovered adrenal hyperplasia?
Adrenal hyperplasia wasn't discovered by a single person as it refers to a group of disorders in which the adrenal glands produce excess hormones. The condition was identified through clinical observation and research by multiple scientists and physicians over time.
Children with congenital adrenal hyperplasia have what characteristics?
Children with congenital adrenal hyperplasia may have excessive production of androgens, leading to ambiguous genitalia in females and accelerated puberty in both sexes. These children may also experience electrolyte imbalances and salt wasting due to insufficient production of cortisol and aldosterone. Treatment typically involves hormone replacement therapy to help regulate hormone levels and manage symptoms.
