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congenital adrenal hyperplasia : Causes-Symptoms-Diagnosis-Treatment


 What is congenital adrenal hyperplasia (CAH)?

Congenital adrenal dysplasia (CAH) could be a genetic condition you're born with. It impacts your adrenal glands. With treatment, many of us realize symptom relief and lead healthy lives.

Congenital adrenal dysplasia (CAH) describes a bunch of genetic disorders poignant your adrenal glands. you have got one ductless gland on the prime of every excretory organ. The adrenal glands turn out many vital hormones your body desires.

In CAH, genetic mutations (changes) cause shortages of enzymes, like 21-hydroxylase, that facilitate your body turning out required hormones. For several individuals with CAH, the catalyst shortage causes the adrenal glands to overproduce alternative hormones, like androgenic hormone.

What is congenital adrenal hyperplasia (CAH)?
 congenital adrenal hyperplasia

There are 2 main styles of CAH: classic CAH and nonclassic CAH. The symptoms depend upon the sort of CAH you have got. There are rather more rare sorts of CAH with completely different symptoms.

Congenital means that a condition you're born with. All sorts of CAH are genetic, or hereditary. To develop CAH, you need to inherit genetic mutations from every one of your elders.

Classic CAH, the foremost common kind of the unwellness, affects as several as one in each ten,000 to 15,000 individuals living within the U.S. and Europe. Each classic and nonclassic CAH have an effect on individuals worldwide.

  1. Endocrine system

  1. Adrenal glands

Medical terms

  • Congenital adrenal dysplasia (CAH) may be a cluster of rare familial chromosome recessive disorders characterized by a deficiency of 1 of the enzymes required to form specific hormones. CAH affects the adrenal glands placed at the highest of every excretory organ. Normally, the adrenal glands square measure answerable for manufacturing 3 completely different hormones: one. corticosteroids, that gauge the body’s response to sickness or injury; two. mineralocorticoids, that regulate salt and water levels; and three. androgens, that square measure male sex hormones. Associate in Nursing protein deficiency can build the body unable to supply one or additional of those hormones, that successively can lead to the overrun of another style of internal secretion precursor so as to catch up on the loss.

  • The most common reason for CAH is the absence of the protein 21-hydroxylase. {different|totally completely different|completely different} mutations within the factor answerable for 21-hydroxylase lead to different levels of the protein, manufacturing a spectrum of effects. CAH thanks to 21-hydroxylase deficiency is answerable for ninety fifth of all cases of CAH and is softened more into 2 subcategories: classical CAH, which may be subdivided into the salt-losing type or the simple-virilizing type, and non-classical CAH. Classical CAH is out and away the additional severe type and may lead to adrenal crisis and death if not detected and treated. Non-classical CAH is milder, and should or might not give symptoms. Since the absence of 21-hydroxylase makes these people unable to form the internal secretion corticosteroid and, within the case of salt-losing CAH, mineralocorticoid, the body produces additional androgens that cause a range of symptoms like abnormal sex organ development in child women. There square measure alternative abundant rarer sorts of CAH moreover, as well as 11-Beta hydroxylase deficiency, 17a-hydroxylase deficiency, 3-Beta-hydroxysteroid dehydrogenase deficiency, inherent lipid adrenal dysplasia and p450 enzyme deficiency that all gift completely different symptoms. Though CAH isn't curable, as long as patients receive adequate care and treatment, they'll maintain their traditional lives.

Congenital adrenal dysplasia (CAH) refers to a bunch of genetic disorders that have an effect on the adrenal glands, a combination of walnut-sized organs higher than the kidneys. The adrenal glands manufacture vital hormones, including:

  • Cortisol, which regulates the body's response to illness or stress

  • Mineralocorticoids, such as aldosterone, which regulate sodium and potassium levels

  • Androgens, such as testosterone, which are male sex hormones

In people who have CAH, a genetic problem results in a lack of one of the enzymes needed to make these hormones.

Although there is no cure, with proper treatment, most people who have congenital adrenal hyperplasia can lead normal lives.

There are two major types of congenital adrenal hyperplasia:

  • Classic CAH. This form is rarer and is sometimes detected in infancy. Close to a simple fraction of individuals United Nations agencies have classic CAH have what is referred to as the salt-losing type, whereas tierce have what is mentioned because of the simple-virilizing type. 

  • Nonclassic CAH. This form is milder and more common, and may not become evident until childhood or early adulthood.

Symptoms Congenital adrenal hyperplasia

Many people with CAH are gifted with abnormally enlarged adrenal glands (hyperplastic adrenomegaly) that manufacture excessive amounts of androgens (male steroid hormones) resulting in abnormal sexual development in females affected with the malady. Females with severe or classic virilizing CAH thanks to 21-hydroxylase deficiency can possibly have ambiguous or atypical external genitals (masculinization or virilization), though they're genetically feminine and can have traditional internal procreative organs. Males with this sort of CAH won't have ambiguous genitals. Each gender will experience alternative symptoms like early onset of pubescence, quick body growth, and premature completion of growth resulting in short stature, if they're not diagnosed and treated in childhood.

About seventy fifth of individuals with classical CAH thanks to 21-hydroxylase deficiency even have a deficiency of the secretion mineralocorticoid, resulting in the shortcoming to retain salt and water (salt wasting). This ends up in excessive loss of water (dehydration), low current blood volume (hypovolemia), and abnormally low pressure level (hypotension and shock). While not treated, this severe style of CAH will cause profound weakness, vomiting, diarrhea, and circulatory collapse thanks to adrenal crisis. The remaining twenty fifth is said to be simple-virilizing and don't have a tangle to control salt and water levels. As luck would have it within the U.S., and in several alternative developed countries, there's universal newborn screening for CAH thanks to 21-hydroxylase deficiency, and therefore the overwhelming majority of kids are diagnosed and treated early to avoid these complications.

The delicate style of 21-hydroxylase deficiency (non-classical CAH) isn't critical and is thanks to an additional common alteration. This delicate type isn't typically detected in our newborn screening programs, and it rarely needs early treatment. Symptoms in later childhood could embrace premature hair or inflammatory disease development. In adolescent females, the foremost common issues embrace excessive facial or hair, catamenial irregularities, and pustular inflammatory disease. Each gender has traditional genitalia. a tiny proportion of the non-classic CAH population has sub-fertility. Patients with CAH could or might not need treatment to boost their quality of life.

Signs and symptoms of CAH vary, reckoning on that cistron is flawed and therefore the level of accelerator deficiency.

Classic CAH

Female infants WHO have classic CAH might have a condition called ambiguous private parts, during which the clit is enlarged or the genitalia look a lot like those of a child. Male infants WHO have classic CAH have traditional showing genitalia. Each male and feminine infant will be seriously stricken by an absence of Cortef, mineralocorticoid or each. This is often called Associate in Nursing adrenal crisis, and it will be grave.

The salt-losing kind Associate in Nursing simple-virilizing style of classic CAH causes children's bodies to provide a meager quantity of Cortef. These kids will have issues maintaining traditional vital signs, traditional glucose and energy levels, and are a lot susceptible to stress. Associate in Nursing more than the male sex hormones may result in brief height and early time of life for each boy and lady.

Signs and symptoms of classic CAH in children and adults include:

  • Appearance of pubic hair at a very early age

  • Rapid growth during childhood, but shorter than average final height

Nonclassic CAH

Often there aren't any symptoms of nonclassic CAH once a baby is born. The condition isn't known on routine child blood screening and typically becomes evident in late childhood or early adulthood. Hydrocortone is also the sole endocrine that is deficient.

Teenage and adult females United Nations agency have nonclassic CAH might have traditional showing crotch at birth, however later in life, they'll experience:

  • Irregular or absent menstrual periods

  • Masculine characteristics such as facial hair, excessive body hair and a deepening voice

  • Severe acne

In both females and males, signs of nonclassic CAH may also include:

  • Early appearance of pubic hair

  • Rapid growth during childhood, an advanced bone age and shorter predicted final height

When to see a doctor

Classic CAH is sometimes detected at birth through needed newborn screening or once feminine babies have ambiguous genitals. CAH may additionally be known once male or feminine babies show signs of severe unhealthiness thanks to low levels of corticosteroid, mineralocorticoid or each.

In kids United Nations agencies have nonclassic CAH, signs and symptoms of early time of life could seem. If you have got considerations concerning your child's growth or development, build a briefing together with your child's doctor.

If you're pregnant and should be in danger of CAH as a result of your own case history or your quality, raise your doctor concerning counseling.

Causes Congenital adrenal hyperplasia

Specific genetic mutations cause CAH. These genetic changes happen throughout a baby’s development within the uterus. individuals living with CAH have all genetic mutated genes from their folks.


The most common reason behind CAH is the lack of the protein called 21-hydroxylase. CAH could generally be referred to as 21-hydroxylase deficiency. There area units alternate a lot of rarer protein deficiencies that additionally cause CAH.

Children WHO have the condition have 2 folks WHO either have CAH themselves or WHO area unit each carriers of the chromosomal mutation that causes the condition. This can be called the chromosome recessive inheritance pattern.

Risk factors Congenital adrenal hyperplasia

Factors that increase the risk of having CAH include:

  • Parents who both have CAH or are both carriers of the genetic defect for the disorder

  • Certain ethnic heritages, such as Ashkenazi Jew, but also Hispanic, Italian, Yugoslav and Yupik Inuit

Complications congenital adrenal hyperplasia

People who have classic CAH square measure are in danger of an adrenal crisis as a result they need terribly low levels of corticoid within the blood. This could cause looseness of the bowels, vomiting, dehydration, low glucose levels and shock. Adrenal crisis could be a severe medical emergency that needs immediate treatment. mineralocorticoid conjointly is also low, that results in dehydration and low atomic number 11 and high K levels. The nonclassic kind of CAH does not cause adrenal crisis.

Males and females World Health Organization have either classic or nonclassic CAH might also expertise fertility issues.

Prevention congenital adrenal hyperplasia

There is no illustration thanks to forestall inherent adrenal dysplasia. If you are thinking of beginning a family and you are in danger of getting a toddler with CAH, your doctor might advocate that you just see a genetic counselor.

What happens if congenital adrenal hyperplasia is not treated?

Many children with CAH who do not receive treatment will develop problems later in life These issues can affect their marriages and careers as well as relationships with their spouses partners friends and families For example: Women with CAH may have difficulty achieving pregnancy or carrying a pregnancy to term due to the effects of excess male hormones on ovulation and fertility Their babies are at high risk for premature delivery and other complications during childbirth Women with CAH also experience increased facial hair growth acne and an increase in muscle mass after puberty which can lead to a mistaken diagnosis of polycystic ovarian syndrome (PCOS) Women.

Is CAH considered a disability?

Whether congenital adrenal hyperplasia (CAH) is considered a disability depends on the particular situation Some people with CAH take daily medication and experience little to no symptoms during their lifetime rendering them not disabled If a person has moderate or severe CAH experiences noticeable effects from the condition and requires ongoing treatment that person probably qualifies as disabled under ADA Title I People with any form of CAH may be considered disabled for purposes of other Federal laws related to health care benefits programs education benefits and housing assistance if they seek those services because of their condition.

Diagnosis Congenital adrenal hyperplasia

All newborns within the u. s. area unit screened for traditional 21-hydroxylase deficiency. Non-classic CAH is often not detected within the newborn, take a look at and thus, might not be diagnosed till childhood or early adulthood once the patient 1st starts showing symptoms. Genetic testing for the cistron mutations related to the assorted kinds of CAH is accessible, however is most frequently performed once pre-pregnancy counseling is indicated, when associate degree specialist confirms the identification through blood internal secretion tests, or if results of internal secretion tests don't seem to be definitive.

Prenatal diagnosis is accessible for couples in danger of having a baby affected with CAH victimization trimester villus sampling and testing the fetal polymer for a specific CAH chromosomal mutation acknowledged to occur within the family. Non-invasive determination of sex may be accomplished through testing fetal polymer within the mother’s blood. Non-invasive antenatal testing for mutations in CYP21A2 (the cistron inflicting this disorder) isn't typically on the market at this time.

CAH could also be diagnosed before a baby is born, throughout childhood or later in life.

Prenatal testing

Tests used to diagnose CAH in fetuses include:

  • Amniocentesis. This procedure involves using a needle to withdraw a sample of amniotic fluid from the womb and then examining the cells.

  • Chorionic villus sampling. This test involves withdrawing cells from the placenta for examination.

Newborns, infants and children

Doctors advocate that each one be a newborn within the U.S. be screened for genetic 21-hydroxylase deficiency throughout the primary few days of life. This takes a look at identifying the classic kind of CAH however does not determine the nonclassic type.

Diagnosis of CAH in older kids and young adults includes:

  • Physical exam. If the doctor suspects CAH based on a physical exam and symptoms, the next step is to confirm the diagnosis with blood and urine tests.

  • Blood and urine tests. These tests look for abnormal levels of hormones produced by the adrenal glands.

  • Gene testing. In older children and young adults, genetic testing may be needed to diagnose CAH.

  • Testing to determine a child's sex. In feminine infants WHO have severe ambiguous crotch, tests are often done to research chromosomes to spot genetic sex. Also, girdle ultrasound is often wont to establish the presence of feminine fruitful structures like the womb and ovaries. 

Treatment Congenital adrenal hyperplasia

Treatment for non inheritable adrenal dysplasia depends on the sort of CAH you've got and the severity of your symptoms. There's no cure for CAH, however many folks realize symptom relief with medications.

Doctors inflict many kinds of medications, together with salt supplements and steroids, to individuals living with classic CAH. Your doctor monitors your condition with regular blood tests to envision secretion levels.

If classic CAH causes venereal abnormalities, surgery 2 to 6 months once birth will correct the looks of external genitals. In some cases, it should be applicable to delay surgery for many years.

People living with nonclassic CAH World Health Organization have terribly delicate or no symptoms that might not like treatment. For some, medications like steroids or fertility medicine improve symptoms.

Your doctor can doubtless refer your kid to a doctor. The World Health Organization makes a specialty of childhood secretion problems (pediatric endocrinologist) for treatment of CAH. The health care team can also embody alternative specialists, like urologists, psychologists and geneticists.


The goal of treating CAH with medications is to scale back excess steroid hormone production and replace deficient hormones. Those who have the classic kind of CAH will with success manage the condition by taking internal secretion replacement medications throughout their lives. Those who have nonclassic CAH might not need treatment or may have solely little doses of corticosteroids.

Medications for CAH square measure taken everyday. During times of unwellness or important stress, like surgery, further medications or higher doses are also required.

Medications might include:

  • Corticosteroids to replace cortisol

  • Mineralocorticoids to replace aldosterone to help retain salt and get rid of excess potassium

  • Salt supplements to help retain salt

Monitoring the effectiveness of medication includes regularly scheduled:

  • Physical exams. The doctor will check your child's growth and development, including monitoring changes in height, weight, blood pressure and bone growth.

  • Monitoring for side effects. The doctor can monitor your kid for side effects, like the loss of bone mass and impaired growth, significantly if steroid-type replacement medication doses are high and used in the future. 

  • Blood tests to check hormone levels. It's critical to possess regular blood tests to confirm internal secretion levels balanced square measure. A baby UN agency hasn't nevertheless reached the time of life desires enough adrenal cortical steroids to suppress androgens so he or she will grow to a traditional height. For female UN agencies to have CAH, it is vital to suppress androgens to attenuate unwanted masculine characteristics. On the other hand, an excessive amount of adrenal cortical steroids will cause Harvey Cushing syndrome. 

Reconstructive surgery

In some feminine infants UN agencies have severely ambiguous private parts as a result of classic CAH, doctors might advocate surgical processes to enhance reproductive organ performance and create them look additional female.

Surgery might involve reducing the scale of the button and reconstructing the canal gap. The surgery is often performed between a pair of and half-dozen months old-time. Female UN agencies that have constructive reproductive organ surgery may have additional rhytidectomy later in life.

Genital surgery is simpler to perform once a baby is extremely young. However, some folks prefer to anticipate surgery till their kid is the right age to know the risks and opt for his or her own gender assignment.

Before creating selections regarding the simplest treatment approach for your kid, speak together with your doctor regarding these problems. operating along, you and your doctor will create hip to selections which will facilitate your kid thrive.

Psychological support is vital to the emotional health and social adjustment of feminine youngsters UN agencies have reproductive organ abnormalities.

  1. Bowel transplant

Prenatal treatment

Synthetic corticosteroids that cross the placenta to the craniate area are polemical and thought of as experimental. additional analysis is required to see the long safety and therefore the result of this treatment on vertebrate brain development. 

Coping and support

Early and steady support from family and health care professionals will facilitate your kid have traditional vanity and a satisfying social life. These approaches could help:

  • Include psychological counseling in your child's treatment plan as needed

  • Seek help from a mental health professional if you're having trouble coping and to help you develop healthy parenting strategies

Preparing for your appointment

You may begin by seeing your general practitioner or your child's medical specialist. He or she might refer you to a doctor WHO specializes in the diagnosing and treatment of conditions associated with the adrenal glands (pediatric endocrinologist).

Here's some info to assist you steel yourself against your appointment. take into account taking a loved one or friend on for support and to assist you bear in mind info.

What you can do

To prepare for your appointment:

  • Find out if your child needs to follow any pre-appointment restrictions, such as changing food or liquid intake to get ready for blood and urine tests.

  • Make a list of any signs and symptoms your child has been experiencing, and for how long.

  • Make a list of your child's key medical information, including recent illnesses, any medical conditions, and therefore the names and dosages of any medications, vitamins, herbs or alternative supplements. 

  • Prepare questions you want to ask your doctor.

Some basic questions to ask your doctor may include:

  • What is likely causing my child's signs and symptoms?

  • Are there other possible causes for these symptoms?

  • What kinds of tests does my child need?

  • What treatment approach do you recommend?

  • What are the expected results of treatment?

  • What are the possible side effects of treatment?

  • How will you monitor my child's health over time?

  • What is my child's risk of long-term complications?

  • Do you recommend that my child receive psychological counseling?

  • Do you recommend that our family meet with a genetic counselor?

Don't hesitate to ask any other questions during your appointment.

What to expect from your doctor

Your doctor is likely to ask you a number of questions. Be ready to answer them to reserve time to go over points you want to focus on. For example, your doctor may ask:

  • What are your child's symptoms?

  • When did you first begin noticing these symptoms?

  • Has anyone in your family been diagnosed with congenital adrenal hyperplasia? If so, do you know how it was treated?

  • Are you planning to have more children?

General summary

  1. Most people with congenital adrenal hyperplasia can expect to live a normal life expectancy People with CAH are at greater risk for getting chronic infections due to their weakened immune systems and require extra care during cold and flu season They also have an increased chance of experiencing glaucoma hearing loss and osteoporosis.

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