The MAGIC Foundation India CAH – Overview

Congenital Adrenal Hyperplasia is an autosomal recessive genetic disorder, which means that it affects males and females in equal numbers, and that it requires both parents to pass on a gene in order for it to manifest as a disease. For a child to be born with any form of CAH, both parents must carry a gene for the disorder.

What is CAH?

Congenital Adrenal Hyperplasia  is an inherited Disorder that affects the Adrenal glands, wherein the Adrenal glands cannot produce Cortisol and Aldosterone, and instead produces an unwanted excess amount of Androgens.

CAH is an autosomal recessive genetic disorder, which means that it affects males and females in equal numbers, and that it requires both parents to pass on a gene in order for it to manifest as a disease.

For a child to be born with any form of CAH, both parents must carry a gene for the disorder. The exact group of genes that cause CAH have been identified and DNA testing is available for diagnosis of CAH and to detect carriers.

Unfortunately, since it is not yet mandatory everywhere in India for CAH testing at birth, except in few large hospitals, across India, many infants still succumb to CAH within a few months of birth. Also, even in large hospitals, unless someone is specifically at risk, for example if they already have a child with CAH, they realise if parents are carriers only after a first child is born and diagnosed with CAH.

The Endocrine system is made of many “glands”, each of which produce certain “hormones”. In a nutshell, hormones are “chemical messengers” that carry instructions between brain and various cells. They are all interconnected, and sometimes the trigger of one hormone triggers the release of another hormone. Hormones can be made of protein or cholesterol. Hormones affected by Congenital Adrenal Hyperplasia, are made from Cholesterol. These are known as Steroid hormones.

The adrenal gland sits above each kidney – one on each side of the body. Each gland consists of an outer “Adrenal Cortex” and an inner “Adrenal Medulla”.

The Adrenal Cortex makes Cortisol, Aldosterone and Androgens. The inner layer makes Adrenaline, the “fight or flight” hormone. In CAH, it is mostly the Adrenal Cortex which is affected, although, in some, the Medulla is also affected.

The Adrenal Cortex comprises of three layers:

The Zona Glomerusa or outermost layer: 
The Glomerusa, makes Mineralocorticoid, most importantly, Aldosterone. This is the layer which is required by any human body, to regulate salt and fluid levels and to maintain normal blood circulation. It instructs the cells to retain Sodium and let go of Potassium. If Aldosterone is deficient or missing, as is the case of Congenital Adrenal Hyperplasia, the body will do the reverse. It will instead lose Sodium and hold Potassium.

Low Sodium will lead to low blood pressure and reduced blood circulation. It can even lead to complete cessation in blood circulation, or “shock”. Low Sodium levels can cause “Hyponatremia”, which can even lead to seizure or death.

When the body cannot release Potassium, it can lead to “Hyperkalemia”. This can cause your heart to beat irregularly, which can also lead to shock and death.

The Zona Fasciculata or the middle layer:
The Fasciculata produces Glucocorticoids, most importantly, Cortisol. This layer usually regulates blood sugar levels, maintains normal blood pressure and helps the body cope with stress and illness.

If Cortisol is deficient or missing, as is the case of CAH, a person is unable to cope with illness, infections, surgery, trauma or any situation which is stressful to the body. It can also cause blood sugar levels to drop dangerously low. Without adequate blood sugar, the brain is unable to function properly. It can also cause blood vessels to contract improperly, leading to low blood pressure.

The Zona Reticularis or the inner layer:
The inner layer produces Androgens. Androgens, most importantly Testosterone, are responsible for the development of genitals and sexual characteristics, and help speed up growth. In CAH, when the body is unable to produce adequate Aldosterone or Cortisol, it instead produces unwanted excess Androgens. This can result in baby girls developing genitals looking masculine, rapid physical development and growth which can in turn cause the growth plates of the skeleton to calcify prematurely, and/or early puberty. Premature skeletal growth can result in growth stopping much earlier than normal. It can cause infertility among women or low sperm count or reduced fertility in men. It can also cause adrenal tissue to rest on testes, causing benign testicular tumors.

It can also cause cosmetic issues like acne, hisuitism or baldness. Although these are not life threatening, they can cause severe psychosomatic problems.

The set of genes responsible for CAH, in normal children, contain the instructions which the Adrenal glands require to produce an enzyme called 21-hydroxylase. In children with CAH, this instruction is missing, and the Adrenal gland is unable to produce Cortisol, a hormone necessary for life. Cortisol is required to deal with physical and emotional stress and to maintain adequate energy supply and blood sugar levels.

The Adrenal glands are controlled by the master gland, the Pituitary. The Pituitary gland is a small pea-sized gland at the base of the brain. In CAH children, when the Pituitary senses that there is not enough Cortisol in the bloodstream, it releases a hormone called ACTH (Adrenocorticotropic hormone). ACTH in turns stimulated the Adrenal glands to produce more and more Cortisol. Unfortunately, those with CAH, lack sufficient amounts of an enzyme 21-hydroxylase, which is required to convert a molecule called 17-hydroxyprogesterone (17-OHP) into Cortisol.

In this cycle, the Pituitary gland keeps on sensing that there is not enough Cortisol in the bloodstream and keeps on pumping ACTH. With this, the level of 17-OHP keeps increasing and this overabundance of 17-OHP is converted by the Adrenal glands, into excess Androgens (the masculinizing steroid Hormone).

Lack of adequate Cortisol prevents the body from proper metabolism of sugar and properly responding to physical or emotional stress. Due to a lack of stress response, someone with CAH can end up in an Adrenal crisis. Further, over 75% of individuals with Classical CAH, also lack another Adrenal hormone called Aldosterone, which is required by the body to maintain normal fluid volume, sodium and potassium, and among other functions, also stabilizes the heart. When this deficiency is also present, it is known as salt wasting Congenital Adrenal Hyperplasia and can be fatal in much number of situations like dehydration inducing episodes of diarrhoea or vomiting or infections to accidents or trauma or any other shock inducing situation, if it is not managed properly and in due time. The remaining 25% of individuals with CAH produce sufficient Aldosterone and are referred to as Simple Virilizers. This form of CAH is not threatening but it can affect puberty and growth in children and can cause infertility in males and females as well as symptoms which can affect the overall quality of life.

There are some individuals with a mild form of CAH who do not even know that they have CAH until something triggers an investigation.

To summarize:
In a child with salt wasting Congenital Adrenal Hyperplasia:

  • Cortisol:
    Cortisol controls how the body copes with stress, both physical and emotional. Children with CAH are unable to cope with any stressful situation and require more steroids during stressful times, like infections or emotional shock or trauma. Cortisol also controls blood sugar levels.
  • Aldosterone:
    Aldosterone helps regulate fluid levels in the body. Individuals with CAH are unable to retain sodium or regulate Potassium. Due to this, they can dehydrate fatally without treatment or management. The loss of salt in the urine is uncontrolled and can cause acute dehydration, and very low blood pressure. The levels of salt (Sodium and Chloride) and sugar (Glucose) fall in the blood, and Potassium levels rise. This can lead to an Adrenal crisis.
  • Androgens:
    Androgens are a group of hormones, one of which is Testosterone. The excess Androgens can cause early sexual development. In girls, it can cause abnormal genital development, irregular menstruation, unwanted facial hair and acne.

Growth Awareness Day

September 20th is Children’s Growth
Awareness Day.


Growth Disorders In Children

Children fail to grow for a variety of reasons. Hormones, genetics, sleep, nutrition, general health and exercise are all factors for normal growth. If you suspect that your child is not growing normally, you are in the right place!

Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia is an autosomal recessive genetic disorder, which means that it affects males and females in equal numbers, and that it requires both parents to pass on a gene in order for it to manifest as a disease. For a child to be born with any form of CAH, both parents must carry a gene for the disorder.

Growth Hormone Deficiency

Growth hormone (GH) is a protein made by the pituitary gland and released into the blood in brief pulses. The major way that GH promotes growth is by increasing levels of the hormone, insulin-like growth factor-1 (IGF-1), and its carrier protein, IGF binding protein-3 (IGFBP-3), in the blood.

Optic Nerve Hypoplasia

A child with the Syndrome of Optic Nerve Hypoplasia, also known as Septo Optic Dysplasia or DeMorsiers Syndrome, has under-developed optic nerves. The optic nerves carry messages from the eye to the brain. ONH is the single leading cause of blindness in infants and toddlers.

Russell Silver Syndrome

Russell-Silver syndrome (or Silver-Russell syndrome) is a rare genetic disorder characterized by delayed growth in-utero (IUGR) that spares head growth (meaning the newborn has a head size that is large for his body) and ongoing postnatal growth failure.

Small for Gestational Age

SGA (small for gestational age) generally describes any infant whose birth weight and/or birth length was less than the 3rd percentile, adjusted for prematurity (gestational age). Between 3% and 10% of live births each year are diagnosed as SGA.

Turner Syndrome

Turner’s Syndrome occurs in 1 in 2,500 live female births. Approximately 98% of pregnancies with Turner’s Syndrome abort spontaneously and approximately 10% of fetuses from pregnancies that have spontaneously aborted have Turner’s Syndrome.

Do get in touch with us at [email protected] for any queries or clarifications.</center

We will be only too glad to be of help.

Connect with us!

We have created a Facebook page called Omkar’s Journey with Congenital Adrenal Hyperplasia to chronicle all possible events and scenarios in the life of a child with CAH, with a view to let new parents know what to expect.

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The MAGIC Foundation India on Facebook

The MAGIC Foundation India group on Facebook is a closed group and is for discussion and sharing of information to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child’s growth. This is a safe place for parents to exchange and seek information that might help them deal with the problem. Note that posts which are not relevant to disorders, syndromes and diseases that affect a child’s growth and which are advertisements for sales of products, services or groups will be deleted and the person posting the message will be removed from the group without notice. If you wish to join this group:

➤ Step 1: Search for the group page on Facebook.
➤ Step 2: Please request to join.
➤ Step 3: Send a message to the Admin or an email to
[email protected] and let us know why you are interested in joining this group.