Someone with Congenital Adrenal Hyperplasia is unable to produce Cortisol. In a normal human body, Cortisol requirement increases by 5 to 10 times the normal requirement in times of physical stress. Physical stress can be either in vomiting, diarrhoea, illness, trauma, surgery, infections or any other situation whether the body is strained
In order to recover from any of these situations, much higher than normal doses of Cortisol is required. Someone with CAH, who does not produce Cortisol even in a normal situation, is unable to recover from any of these situations. They are unable to generate any response to illness or trauma.
Adrenal crisis is a medical emergency and potentially life-threatening situation requiring immediate emergency treatment. It is a constellation of symptoms that indicate severe adrenal insufficiency caused by insufficient levels of the hormone cortisol. Without Cortisol, there may be low blood flow, creating “shock”. There could even be organ damage or brain injury. Adrenal crisis can even result in coma or death.
In CAH, an Adrenal crisis can occur due to delayed diagnosis or at times of illness or stress. At times like these, due to the inability of their body to produce the large amount of Cortisol required to fight illness, they require Stress Dosing.
Stress dosing of Hydrocortisone is given in times of physical stress to avoid an Adrenal crisis, and its subsequent dangers. Minor illness like common colds may not require stress dosing, but very high fevers for more than a day will surely require it. Very high fevers that are prolonged, as in a Virus, and when the temperature goes higher than 101, will need stress dosing through every day of the high fever, and should continue for one more day after the temperature is normal. In cases where antibiotics are prescribed, the fever may come down in a day or so. In those times, the stress dosing is only given until the fever is present.
Dental surgeries may require stress dosing, but not minor dental cleaning work.
In times of accidents, a minor injury where someone with CAH seems to be mentally normal does not require stress dosing. But, major accidents where they seem to be unconscious or disoriented or in shock will definitely require stress dosing.
In times of Surgery, normally Cortisol requirement goes up by about 5 times the normal requirement. In CAH, stress dosing may be started by IV, prior to the anaesthesia and surgery, and continue till the surgery ends. Afterwards, where they are able to take oral medication, stress dosing may be continued for a day or so. In case there are no complications like fever afterwards, they can go back to the normal dose. Otherwise, they are given stress doses until they are back to normal.
In case there is bone breakage, stress dosing is surely given.
Excessive vomiting or diarrhoea, they may not be able to take oral medication even in a normal dosage, leave alone a stress dosage. In those times, they should be taken to the Emergency Room. As it is, vomiting puts those with CAH under tremendous stress, all the more if they are salt wasting. In the case of salt wasters, due to deficient Aldosterone, they can also dehydrate. In those times, they may require to stay in the hospital under IV fluids and IV Glucocorticoids.
Even in the Hospital, it is important that you share information and ask questions a lot. Remember that in an Emergency Room, not everyone present at that moment will be fully aware of CAH and its repercussions. If the Endocrinologist is not present or not accessible right away, keep sharing information all relevant information such as normal dose, what occurred, how your child appears compared to normal and so on. Your instinct may be important at such times.
The school which a CAH child goes to must be fully informed as soon as they are admitted. They should also be continuously updated about dosage changes and what to expect in terms of appetite, sleep, energy levels or exercise. They should be requested to notice subtle changes and inform.
In case of travel far away from the regular Paediatric Endocrinologist or the regular Hospital, make sure that you carry adequate medication to cover for stress dosing if required, medication for fever, vomiting, diarrhoea and any other medication which might be required. Make sure that you carry the medical file in case you have to rush to a new Hospital for a crisis. Try to always have access in emergencies, to either your regular Endocrinologist, or someone whom they recommend to contact in those times.
In the life of someone with CAH, precaution is the best savior. Try to avoid all emergencies or a crisis by taking due care.
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’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.
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.
➤ 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.