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Overview

Congenital Adrenal Hyperplasia (CAH) Test

Congenital Adrenal Hyperplasia (CAH) Test

The diagnosis of Congenital Adrenal Hyperplasia mainly depends on the demonstration of the inadequate production of aldosterone, cortisol or both in the presence of the accumulation of excess concentrations of parent hormones. A baby can be diagnosed with congenital adrenal hyperplasia during pregnancy and sex of the baby after birth. A series of tests and thorough physical examinations are performed. Sometimes, congenital adrenal hyperplasia can be diagnosed and detected during pregnancy with the help of various prenatal tests. In some cases, the treatment can be started when the baby is still in the womb if there is a family history of congenital adrenal hyperplasia. This helps in preventing the masculinizing effects on the female.

You may start by seeing your child’s pediatrician or your family doctor. He/she may then refer you to a specialist who diagnoses or treats congenital adrenal hyperplasia conditions. Before your appointment, you need to prepare for the following: Find out if your child needs to follow any pre-appointment restriction like changing liquid or food intake to get ready for urine or blood tests. Make a list of the signs and symptoms which the child has been experiencing and the duration. Make a list of your child’s medical information, which includes any recent illness or any medical conditions, the names and dosages of the medications, herbs, vitamins or any other supplements. Prepare yourself with the questions you want to ask the doctor.

Congenital adrenal hyperplasia diagnosis helps in maintaining the hormone levels and promotes the normal growth in the children. People with classic congenital adrenal hyperplasia require medicines named glucocorticoids to replace the cortisol which their bodies cannot make. Its treatment is done to normalize the excessive male hormone secretion and to replace the deficient giving steroid hormone cortisol. The exact treatment also varies between the patients depending on specific genetic mutation and severity of their condition. In case of any queries, the patient should discuss with their doctor.

The diagnosis of congenital adrenal hyperplasia involves the following:

  • Physical exams – The doctor examines the growth and development of your child which includes monitoring changes in bone growth, blood pressure, weight, and height.
  • Monitoring for side effects – The doctor then monitors the side effects in your child such as impaired growth and loss of bone mass.
  • Blood tests to check hormone levels – Regular blood tests are conducted to indicate whether medications require adjusting.

Specimen
Serum, frozen
Volume
1.5 mL
Container
Red-top tube only. Do not use gel-barrier tube..
Type Gender Age-Group Value
CYP21A2 Gene
Unisex
All age groups
Observed in positive cases
Average price range of the test is between Rs.1500 to Rs.1500 depending on the factors of city, quality and availablity.

Table of Content

What is Congenital Adrenal Hyperplasia (CAH) Test?
Preparation for Congenital Adrenal Hyperplasia (CAH) Test
Uses of Congenital Adrenal Hyperplasia (CAH) Test
Procedure for Congenital Adrenal Hyperplasia (CAH) Test
Specimen Requirements
Normal values for Congenital Adrenal Hyperplasia (CAH) Test
Price for Congenital Adrenal Hyperplasia (CAH) Test
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Popular Questions & Answers

I am currently having high blood pressure, did a master check-up in blood, only cholesterol is very high, apart from that no effects on kidney ,heart ,no sugar My BP is 178 / 115 when I am normal, could not find the reason what could be the reason of my high BP.

Bachelor of Ayurveda, Medicine and Surgery (BAMS)
Ayurveda,
I am currently having high blood pressure, did a master check-up in blood, only cholesterol is very high, apart from ...
Diastolic BPshould not across 100 high salt intake ,inadequate sleep causes high BP you must be having essential hypertension get your ECG and fundoscopy (eye examination) along with your current medicines panchkarm shirodhara will help to lower your BP tab brahmi vati 2 twice a day tad aswagandha 1 twice a day small healthy meals and sound sleep is essential.

I had fever from last two days. My doctor gave me dexona injection. And used it on me. But my another doctor told me that if I use dexona in fever, it can make me a polio patient. Dexona in fever can give you polio in legs or other organs? I'm too afraid from this. Please help.

M.B.S.(HOMEO), MD - Homeopathy
Homeopath, Visakhapatnam
I had fever from last two days. My doctor gave me dexona injection. And used it on me. But my another doctor told me ...
Dexamethasone is a steroid that prevents the release of substances in the body that cause inflammation. Dexamethasone is used to treat many different conditions such as allergic disorders, skin conditions, ulcerative colitis, arthritis, lupus, psoriasis, or breathing disorders. This medication is used to treat various conditions such as severe allergic reactions, arthritis, blood diseases, breathing problems, certain cancers, eye diseases, intestinal disorders, and skin diseases. It is also used to test for an adrenal gland disorder (Cushing's syndrome).
1 person found this helpful

Pea 4.2 2 years back then 3.75 6 month back 5.7 usg report 3 years back grade 2 prostate.

BASM, MD, MS (Counseling & Psychotherapy), MSc - Psychology, Certificate in Clinical psychology of children and Young People, Certificate in Psychological First Aid, Certificate in Positive Psychology, Positive Psychiatry and Mental Health
Psychologist, Palakkad
Pea 4.2 2 years back then 3.75 6 month back 5.7 usg report 3 years back grade 2 prostate.
Dear lybrate user. I can understand. The normal prostate size for an adult male is 15cc to 30cc (one half ounce to one ounce). Men whose prostate gland is larger than 30 cc are more likely to be diagnosed with either benign hyperplasia (enlargement) or prostate cancer than those whose prostate is in the normal range. Please work with your doctor for treatment. Take care.
1 person found this helpful

Sir I am 24 year old male and my beard growth is very less .can I use minoxidil for beard growth. Or what other option is to grow beard please help me.

MBBS, Diploma in Venerology & Dermatology (DVD)
Dermatologist, Delhi
Sir I am 24 year old male and my beard growth is very less .can I use minoxidil for beard growth. Or what other optio...
In boys the less beard & moustache can be due to following causes: Male Hormone Deficiency , Growth hormone deficiency , Growth factor deficiency, Zinc Deficiency, Testosterone biosynthetic defects. Congenital adrenal hyperplasia, Absent development of hair roots, Alopecia universalis , use of certain drugs etc. The first and foremost thing is to identify the cause by taking a detailed history.The treatment consists of hormone therapy which is given in form of oral tablets or injections or local application as androgen cream.
1 person found this helpful

My baby boy 1.5 months. (4.8 kg) splitting milk through nose almost daily & through mouth also. Doctor says its normal. But he gets breathless for the moment & we scare a lot. Also he gets gases much & do not feel comfortable during sleeps until he splits the milk. Please suggest, if it can be cured / reduced with medicine. Any test are required?

MBBS, MD - Paediatrics
Pediatrician,
My baby boy 1.5 months. (4.8 kg) splitting milk through nose almost daily & through mouth also. Doctor says its norma...
Its quite common for infants to do that. You also need to burp the baby after feeding. For about 10-15 mins till he burps. N later put him to sleep. Try to give small n frequent feeds. As the babys weight is appropriate, not to worry much.

Popular Health Tips

Blood Thinners!

MBBS, Dip.Cardiology, Fellowship in Clinical Cardiology(FICC), Fellowship in Echocardiology
Cardiologist, Ghaziabad
Blood Thinners!

If you have some kinds of heart or blood vessel disease, or if you have poor blood flow to your brain, your doctor may recommend that you take a blood thinner. Blood thinners reduce the risk of heart attack and stroke by reducing the formation of blood clots in your arteries and veins. You may also take a blood thinner if you have

There are two main types of blood thinners. Anticoagulants, such as heparin or warfarin (also called Coumadin), work on chemical reactions in your body to lengthen the time it takes to form a blood clot. Antiplatelet drugs, such as aspirin, prevent blood cells called platelets from clumping together to form a clot.

When you take a blood thinner, follow directions carefully. Make sure that your health care provider knows all of the medicines and supplements you are using.

1 person found this helpful

Infertility - A Guide

MBBS, MD - Obstetrics & Gynaecology
Gynaecologist, Delhi
Infertility - A Guide

The term infertility in females explains a wide range of disorders but in order to simplify things, lets’ just say, infertility in women is a condition in which women are unable to conceive. There are numerous reasons that can be responsible for this situation and although some are preventable or curable, most others have no specific cure or treatment.

Ovulatory Disorders

One of the most common reasons for infertility is an ovulatory disorder. Almost 30 percent of female infertility is caused due to this reason. 70 percent of such infertility is treatable with drugs such as Reprones/Menogan and Clomiphene. Here is a list of causes of failed ovulation-

  1. Disruption in the complex hormonal balance.

  2. Ovaries fail to produce mature eggs. Polycystic ovarian syndrome is the most common disorder causing this problem. This syndrome has reduced FSH production and increased production of LH, Oestrogen and Testosterone. Suppressed FSH production may cause the partial development of ovarian follicles.

  3. Hypothalamus may malfunction thereby causing the pituitary to malfunction, thus losing control over the process or FSH and LH production.

  4. Physical damage to the ovaries by multiple surgeries or due to the formation of cysts.

  5. A rare case of premature menopause.

  6. Problems of the follicle.

  7. Poor functioning of fallopian tubes

Diseases or disorders in the tube have been another major reason of infertility in women. Almost 25 percent of women infertility occurs due to this reason. Although treatments exist, success rates of the treatments are as high as 30 percent. The causes of tube damage may be as follows-

  1. Infection caused by bacteria or viruses

  2. Abdominal diseases like colitis and appendicitis

  3. Previous pelvic or abdominal surgeries.

  4. A condition called ectopic pregnancy which occurs in the tube, and even if very carefully but successfully overcome, may leave permanent damage.

  5. Rare congenital defects in which women may be born with tube anomalies.

Endometriosis

This is the condition where the endometrium expands excessively thereby preventing individuals from getting pregnant. This affects almost 10 percent of the population of infertile women. Almost 40 percent of women with endometriosis are infertile.

Other Factors

Other additional factors may include:

  1. Abnormal uterus

  2. Congenital diseases

  3. Behavioural factors like personal habits, lifestyle and health factors.

  4. Exercise and diet- extremely overweight or underweight women may have problems in conceiving.

  5. Cigarette smoking reduces the chances of conceiving by one-third.

  6. Alcohol increases the chances of birth defects.

Hence, pregnancy is tougher than it might really seem. If you wish to discuss about any specific problem, you can consult a Gynaecologist.

3547 people found this helpful

Missing Periods - 5 Possible Reasons

MBBS, DGO, DNB - Obstetrics and Gynecology
Gynaecologist, Delhi
Missing Periods - 5 Possible Reasons

The amount of emotional upheaval that periods, or no periods (for that matter) can cause, is something that every woman is aware of. It's normal to miss your period for different reasons occasionally, but develops to be a concern if this absence persists over a period of time. The condition is then termed as a case of secondary amenorrhea. Although most people are quick to consider pregnancy while dealing with the various reasons for missed periods, there are a number of possibilities which are seldom mulled over but should be considered in order to take the effective precautions and seek proper medical care:

1. Weight:
Body weight is responsible for affecting the hypothalamus and this may, in turn, upset your menstrual cycle. BMI level under 18-19 may result in triggering irregularities since enough estrogen will not be created. This is also why underweight women, who suffer from bulimia or anorexia, tend to miss their periods frequently. 
On the other hand, overweight women may stop ovulating due to increase in the production of estrogen and therefore, have heavy, infrequent periods. Therefore, it is essential that body weight be regulated to avoid any disappointment at 'the time of the month.'
2. Stress:
Any type of physical or emotional stress is bound to affect your cycle. This is because, the production of stress hormones in the body increases and an elevated level of adrenaline and cortisol may impair the functioning of the reproductive system. Under stressful situations, the body employs its amino acids to assist the neurotransmitters to produce stress hormones over sex hormones. As a consequence, the chances of missing your periods increase.

3. Exercising Too Much:
While regular workout is indispensable for battling a sedentary lifestyle, overdoing it might cause your body to produce lesser estrogen and delay your periods. Women, who are into athletics and gymnastics, are more likely to suffer from amenorrhea. In fact, other aspects of over-exercising, like sleeping less, fasting, and infections also contribute to such irregularities.
4. Brest Feeding:
Prolactin is the hormone that aids in milk production and may also repress ovulation for a while. Many breastfeeding moms may not get their periods for a month or more as a result. But this doesn't do away with your chances of getting pregnant. A span of three months is expected to pass before the abnormalities are done away with.
5. Food Allergies:
Celiac disease or untreated gluten allergy can directly harm hormone production. They are directly related to your gut health and your adrenal glands which is why they can influence the sex hormone creation. If you wish to discuss about any specific problem, you can consult a Gynaecologist.

4510 people found this helpful

How To Prepare Yourself for Heart Transplantation?

MBBS, MD - Medicine, DM - Cardiology
Cardiologist, Delhi
How To Prepare Yourself for Heart Transplantation?

A heart transplant is an operation in which a failing, diseased heart is replaced with a healthier, donor heart. Heart transplant is a treatment that's usually reserved for people who have tried medications or other surgeries, but their conditions haven't sufficiently improved.

While a heart transplant is a major operation, your chance of survival is good, with appropriate follow-up care.

When faced with a decision about having a heart transplant, know what to expect of the heart transplant process, the surgery itself, potential risks and follow-up care.

Why it's done

Heart transplants are performed when other treatments for heart problems haven't worked, leading to heart failure. In adults, heart failure can be caused by several conditions, including:

  1. A weakening of the heart muscle (cardiomyopathy)
  2. Coronary artery disease
  3. Heart valve disease
  4. A heart problem you're born with (congenital heart defect)
  5. Dangerous recurring abnormal heart rhythms (ventricular arrhythmias) not controlled by other treatments
  6. Amyloidosis
  7. Failure of a previous heart transplant
  8. In children, heart failure is most often caused by either a congenital heart defect or a cardiomyopathy.

Another organ transplant may be performed at the same time as a heart transplant (multiorgan transplant) in people with certain conditions at select medical centers. Multiorgan transplants include:

  1. Heart-kidney transplant. This procedure may be an option for some people with kidney failure in addition to heart failure.
  2. Heart-liver transplant. This procedure may be an option for people with certain liver and heart conditions.
  3. Heart-lung transplant. Rarely, doctors may suggest this procedure for some people with severe lung and heart diseases, if the conditions aren't able to be treated by only a heart transplant or lung transplant.

Factors that may affect your eligibility for a heart transplant

A heart transplant isn't the right treatment for everyone. Certain factors may mean you're not a good candidate for a heart transplant. While each case is considered individually by a transplant center, a heart transplant may not be appropriate if you:

  1. Are an advanced age that would interfere with the ability to recover from transplant surgery
  2. Have another medical condition that could shorten your life, regardless of receiving a donor heart, such as a serious kidney, liver or lung disease
  3. Have an active infection
  4. Have a recent personal medical history of cancer
  5. Are unwilling or unable to make lifestyle changes necessary to keep your donor heart healthy, such as not drinking alcohol or not smoking

What happens after the transplant?

Most people leave hospital within about four weeks of the operation, but depending on your condition, you may need to stay in hospital for longer.

In the first few months after your surgery you will need to spend a lot of time visiting the hospital – you might even need to stay near the transplant centre. Your transplant team will talk to you about practical arrangements for after your surgery.

Although you will be weak after the operation, recovery can be very quick. It is important to build up your level of activity gradually. You should avoid activities involving lifting and pushing until your breastbone is fully healed, which can take up to three or four months.

Once you feel fit and able, you can start doing things like light vacuuming or light gardening. If you wish to discuss about any specific problem, you can consult a Cardiologist.

3143 people found this helpful

Heart Transplant - When Is It That You Have To Go For It?

MCH DNB (CTVS), Advanced fellowship, MS
Cardiothoracic Vascular Surgery, Delhi
Heart Transplant - When Is It That You Have To Go For It?

There are many people worldwide who suffer from heart problems (irrespective of their age and sex). While in most cases, the condition improves with proper treatment and medications, in few, the condition is beyond treatment. A heart transplant comes as a savior for such people. It gives them a new lease of life. The transplant involves replacing a heart that has stopped functioning normally (damaged or may be diseased) with a healthy heart (from the donor).

Over the years, heart transplant has undergone a sea of change. With the advancement of science and technology, the success rate in a heart transplant has seen an exponential rise.

People who need a heart transplant:
A heart transplant may be essential in the following cases.

  • A congenital heart disorder (a person born with a heart problem).
  • Defective or diseased heart valves.
  • Amyloidosis (a condition where amyloid fibrils get deposed in the tissues and organs of the body intracellularly or extracellularly).
  • Problems in the coronary artery.
  • Cardiomyopathy (A condition where the muscles of the heart become weak, thereby affecting the normal functioning of the heart).
  • A heart transplant that failed previously.
  • Ventricular Arrhythmias (a condition that originates in the ventricles, in ventricular arrhythmias, the heart rhythms are abnormally rapid).


However, under the following circumstances, a heart transplant may not be a wise idea

  • People with infections or chronic lung or kidney disorders.
  • A case of cancer in the past.
  • Age may be a deciding factor.The recovery from a heart transplant may not be 100% in an aged person.

The heart transplant procedure:
The first step in heart transplant is the availability of a suitable donor. In this case, a donor is a person whose brain is dead but the other organs, including the heart, is healthy and functioning properly. A surgeon performs three operations in a heart transplant.

  • The first operation is essentially the removal of the healthy heart from the donor body. The heart is kept in a cool place, preferably ice (to keep the heart alive and in good condition until the heart transplant takes place).
  • In the second operation, the recipient's damaged or diseased heart is operated out.The situation may, however, be complicated if the patient had a heart surgery in the past.
  • The third and the final surgery involves implanting the donor heart into the recipient body (the recipient's upper heart chambers and the atrial back wall are however not removed).
  • Once the implantation takes place (without any complications), the surgeons sew the heart into place.
  • The blood vessels are then connected back to the heart and the lungs. The heart starts beating again once it is warmed up.
  • To enable the patient to receive the nutrients and oxygen (during the heart transplant), the patient is put on a heart-lung machine.
  • If no complications develop after the transplant, the patient is discharged within a fortnight.

In some unfortunate cases, there may be organ rejection. The condition arises when the recipient's immune cells see the transplanted heart as non-self (foreign agents). If left unattended, it may damage the heart. Immunosuppressant drugs can help avert the rejection. However, it is important to monitor the patient closely for any infections that may arise to the administration of the immunosuppressants. If you wish to discuss about any specific problem, you can consult a Cardiologist.

2590 people found this helpful