Adrenogenital Syndrome

Adrenogenital syndrome is a rare condition in which the adrenal glands do not function properly. The adrenal glands are two small glands located on top of each kidney. They produce hormones that help control heart rate, blood pressure, the way the body uses food, and other essential functions.

Adrenogenital syndrome is a genetic disorder, meaning it is passed down through families.

Adrenogenital syndrome can affect both sexes, but is more common in girls. Symptoms in girls include genital abnormalities, excess facial and body hair (hirsutism), acne, and irregular menstrual periods. Boys with adrenogenital syndrome may have signs of puberty that begin too early or too late, or they may develop female breast tissue (gynecomastia).

If left untreated, adrenogenital syndrome can lead to serious health problems including:


High blood pressure


Weak bones (osteoporosis)

Adrenogenital syndrome is a condition that occurs due to an excess of the hormone cortisol in the body. Cortisol, also called hydrocortisone, is produced by the adrenal glands. Adrenogenital syndrome can also be caused by an excess of androgens, which are male sex hormones. The condition is also called congenital adrenal hyperplasia or CAH.

Adrenogenital syndrome can cause early puberty or amenorrhea (absence of menstruation) in girls and enlarged genitals in boys. It can also cause impotence in men and premature baldness in both sexes. People with this disorder may be infertile.

Adrenogenital syndrome is a genetic disorder that is passed from parent to child through genes. The most common form of the disorder arises when a child inherits two abnormal genes for 21-hydroxylase, one from each parent. This type of the disorder accounts for more than 90 percent of all cases of adrenogenital syndrome.

Adrenogenital syndrome is an inherited or acquired dysfunction of the adrenal glands, which are located on top of each kidney. In children with adrenogenital syndrome, the adrenal glands don’t produce enough of the hormones cortisol and aldosterone.

Adrenogenital syndrome may also result in the overproduction of androgens, the male sex hormones. Excessive levels of these hormones can cause genital abnormalities and disruption in sexual development.

Adrenogenital syndrome is a group of symptoms related to overproduction of male sex hormones in the body.

Adrenogenital syndrome can be caused by a tumor in the ovaries or testicles, or by overproduction of adrenocortical hormones.

Adrenogenital syndrome may also be called congenital adrenal hyperplasia.

adrenogenital syndrome, also known as congenital adrenal hyperplasia, is a group of congenital disorders resulting from enzyme defects affecting the synthesis of cortisol and/or aldosterone in the adrenal gland. The classic form results in an excess of sex hormones (androgens) in both sexes, but particularly females.

Adrenogenital Syndrome
Adrenogenital Syndrome

Diagnosis involves measurement of 17-hydroxyprogesterone and other adrenal hormones. Treatment is with hydrocortisone or prednisone.

Congenital adrenal hyperplasia is a group of autosomal recessive diseases in which steroidogenesis from cholesterol is impaired due to enzyme deficiencies at various steps in the synthesis of cortisol, aldosterone, and sex hormones. There are seven enzyme deficiencies which result in three different phenotypes: classical 21-hydroxylase deficiency (the most common), nonclassical 11β-hydroxylase deficiency, and 3β-hydroxysteroid dehydrogenase deficiency.

Classical congenital adrenal hyperplasia (“CAH”) accounts for 95% of diagnosed cases. It is caused by mutations in the CYP21A2 gene encoding 21-hydroxylase (also known as P450c21).

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency may be classified into three categories: classic, simple virilizing and salt wasting. The classic form presents with ambiguous genitalia at birth in both sexes, and early virilization in girls. If untreated, it may lead to feminization of the male fetus or masculinization of the female fetus. The simple virilizing form presents later in childhood with precocious puberty in girls and delayed puberty in boys. The salt wasting form is the most

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Bilateral adrenal hyperplasia refers to enlarged adrenal glands. Both of the adrenal glands are enlarged, and this occurs when they make too much of the hormone cortisol.

The symptoms of bilateral adrenal hyperplasia include:

Upper body obesity with round face and neck

Slow growth rate

High blood pressure

Diabetes mellitus

Glucose in the urine (glucosuria)

What Causes Adrenogenital Syndrome?

What Causes Adrenogenital Syndrome
What Causes Adrenogenital Syndrome

Adrenogenital syndrome is a group of symptoms that affect newborns and young children. The most common symptom is genitalia with unusual characteristics (ambiguous genitalia) in affected girls.

Many different genetic and environmental factors may lead to adrenogenital syndrome. The condition can be caused by an inherited gene mutation, or it can develop as a result of environmental exposure before birth.

Adrenogenital syndrome is a genetic disorder that causes your body to produce too much cortisol and adrenal androgens. It can cause both physical and psychological problems.

Androgen is the generic term for hormone-related steroids that are responsible for the development and maintenance of males. Adrenal androgens are produced by the adrenal glands, which sit on top of your kidneys.

Adrenogenital syndrome occurs when you inherit two mutated copies of a gene in a pair — one from each parent. You’ll then have symptoms of the condition, which may include:

Ambiguous genitalia at birth (the genitals don’t look clearly male or female)

Precocious puberty (puberty that begins before age 8 in girls and age 9 in boys)

Short stature (height)

Delayed puberty (puberty that starts after age 13 in girls and age 15 in boys) In some cases, adrenogenital syndrome results from having only one mutated copy of a gene pair. If this happens, you won’t have any symptoms but will pass along the mutation to half of your children.

Your adrenal glands produce hormones that control your metabolism, immune system, blood pressure and other essential body functions. Adrenogenital syndrome — also called congenital adrenal hyperplasia (CAH) — is a group of inherited disorders that affect your body’s production of these hormones.

Adrenogenital syndrome usually occurs when the adrenal glands produce an insufficient amount of the hormone cortisol or an excess of the hormone aldosterone. If you’re female, you may also produce too much male sex hormone (androgen).

Mild forms of adrenogenital syndrome may go undiagnosed because they cause few or no symptoms. More severe forms are diagnosed early in life because they cause significant physical changes in infants and children.

Most forms of adrenogenital syndrome are treated with medication. Surgery may sometimes be needed if you have abnormal genitalia at birth.

The condition is caused by a problem with a person’s adrenal glands.

The adrenal glands are near the kidneys. They make hormones that help the body respond to stress, control blood sugar levels and regulate blood pressure.

Adrenogenital syndrome is usually caused by a genetic mutation (inherited defect) in one of the genes that controls steroid production.

If this condition runs in a family, it can be passed down from parents to children through one of the genes

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The adrenal glands are two small glands located on top of each kidney. They produce several important hormones that help regulate heart rate, blood pressure, and the way the body uses food.

Adrenogenital syndrome (AGS) is a genetic disorder that affects the adrenal glands. AGS may also be called congenital adrenal hyperplasia (CAH). This condition occurs in about 1 out of every 10,000 newborn babies.

Both girls and boys can have AGS, but it is much more common in girls than in boys. It is rare in adults

DHEA is also a normal component of urine, so the urine test is not as accurate as the blood test.

The diagnosis of congenital adrenal hyperplasia (CAH) is confirmed by confirming very low levels of cortisol and elevated levels of both 17-hydroxyprogesterone (17-OHP) and ACTH in blood samples. The blood sample should be taken at 8 am after an overnight fast, when cortisol levels are normally highest. If the 17-OHP is only mildly elevated, more than one sample may be needed to confirm the diagnosis.

The diagnosis of CAH is confirmed in nearly all cases by genetic testing, which looks for mutations in the CYP21A2 gene, the gene that codes for 21-hydroxylase. This gene may be altered or mutated in many different ways; some cause severe disease while others cause mild disease or no disease at all. If the genetic mutation causing CAH can be identified, it helps doctors predict how severe a child’s condition will be and how aggressively treatment should be pursued.

How is Adrenogenital Syndrome Diagnosed?

How is Adrenogenital Syndrome Diagnosed
How is Adrenogenital Syndrome Diagnosed

Diagnosis of the adrenogenital syndrome depends on whether you are male or female.

In males, a doctor will often suspect adrenogenital syndrome if precocious puberty occurs with other symptoms of congenital adrenal hyperplasia, such as ambiguous genitalia.

In females, a doctor may suspect adrenogenital syndrome when signs of early puberty occur before age 8. This may be followed by difficulty achieving adult height or acne.

The diagnosis is usually confirmed by lab tests that measure hormone levels in blood samples. This may include one or more of the following:

17-hydroxyprogesterone (17-OHP) level – a high level of this hormone confirms the diagnosis of the classic form of adrenogenital syndrome in both males and females

Corticotropin stimulation test – a test used to diagnose other forms of congenital adrenal hyperplasia by measuring how well your adrenal glands respond to corticotropin (ACTH), a hormone produced by your pituitary gland that stimulates your adrenal glands to produce cortisol and other hormones

Sodium/plasma renin activity test – measures the amount of sodium in your blood and how much plasma renin is active in your body. High sodium levels and low plasma ren

Adrenogenital syndrome is usually diagnosed in infancy or early childhood, depending on the severity of the symptoms.

During a routine physical exam, your doctor will check for signs and symptoms of adrenogenital syndrome. Your doctor may also ask if any relatives have had a similar condition. He or she may also ask if you or your child has experienced symptoms of adrenogenital syndrome, such as premature or delayed puberty, high blood pressure, or a lack of sexual development.

Adrenogenital syndrome is usually diagnosed based on a history of symptoms and the results of a physical examination.

Tests that may be done include:

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17-hydroxyprogesterone level

Blood cortisol level

Blood karyotype

Blood tests that look for high levels of testosterone in a woman or low levels in a man

CT scan of the adrenal glands or whole body to check for tumors

MRI of the adrenal glands to check for tumors

Adrenogenital syndrome may be recognized in the newborn period by the presence of ambiguous genitalia (if a male), salt loss, and dehydration. Later it is recognized by characteristic signs and symptoms.

The diagnosis of adrenogenital syndrome is made after other possible causes for hyperandrogenism are ruled out. If a woman has adrenogenital syndrome, her children may have symptoms as well.

A physical exam may reveal:


Enlarged clitoris

Absent or incomplete sexual development (ambiguous genitalia)

Increased muscle mass

Deep voice and increased growth of facial hair (less common)


Ambiguous genitalia in the newborn period (less common)

Small penis size in older children and adults (less common)

Tests may include:**

Blood tests to look for high levels of certain hormones, including cortisol and dehydroepiandrosterone sulfate (DHEAS). These hormones are made by the adrenal gland. The test results help determine if there is an adrenal gland problem such as adrenal tumor or cancer, or if another hormone-making gland is causing the problem. Other blood tests that may be done include:**

Adrenogenital syndrome is a condition that affects the adrenal glands, which are small glands located on top of the kidneys. The adrenal glands produce hormones that help regulate various body functions, including metabolism and the body’s response to stress. In people with adrenogenital syndrome, there is a deficiency in the production of these hormones.

The signs and symptoms associated with adrenogenital syndrome depend upon the specific hormone deficiency involved. Generally, there are three major types of adrenogenital syndrome:

Congenital adrenal hyperplasia (CAH)

Nonclassic congenital adrenal hyperplasia (NCAH)

Late-onset congenital adrenal hyperplasia (LOCAH)

In all three conditions, affected individuals have a deficiency in cortisol, which can result in an inability to cope with stress. However, some affected individuals also have a deficiency in aldosterone as well. Aldosterone helps regulate sodium and potassium levels in the body, and deficiencies can lead to an imbalance of these electrolytes. Other problems may occur depending upon whether other hormones are also deficient.

Genetic testing, chromosome analysis, and biochemical tests are all used to diagnose congenital adrenal hyperplasia. Additionally, a physical examination will be conducted.

Testing for CYP21A2-related CAH:

Chromosome analysis (karyotype) — A karyotype is a microscopic photograph of an individual’s chromosomes. It is usually done to look for chromosomal abnormalities but can be used to detect the presence of two X chromosomes and one Y chromosome in males with CAH.

Genetic testing — Genetic testing is available for some of the more common genetic mutations that cause CAH. Molecular genetic testing using PCR may be used with blood or saliva samples and is useful in identifying multiple mutations as well as carrier status.

Newborn screening — Newborn screening programs have been established in many states in an attempt to diagnose infants with CAH before symptoms can appear. This involves taking a blood sample from the baby’s heel within 48 hours after birth and analyzing it for levels of 17-hydroxyprogesterone (17-OHP). For babies born at home or out of state, parents can ask the physician or midwife to send the sample to their local public health department for testing. For information about newborn screening in your state,