How do I know if I have Congenital Adrenal Hyperplasia (CAH)?

What signs or symptoms may make you suspect you may have Congenital Adrenal Hyperplasia (CAH). People who have experience in Congenital Adrenal Hyperplasia (CAH) offer advice of what things may make you suspicious and which doctor you should go to to receive treatment

Do I have Congenital Adrenal Hyperplasia (CAH)?

Congenital Adrenal Hyperplasia (CAH) is a genetic disorder that affects the adrenal glands, which are responsible for producing hormones that regulate various bodily functions. CAH is typically caused by a deficiency in an enzyme called 21-hydroxylase, which leads to a disruption in the production of cortisol and aldosterone hormones.

Signs and symptoms:

CAH can present differently depending on the severity of the enzyme deficiency. In more severe cases, symptoms may be noticeable at birth or during early childhood, while milder forms may not become apparent until later in life. Some common signs and symptoms of CAH include:

Abnormal genitalia in females

Excessive body hair (hirsutism) in both males and females

Early onset of puberty

Short stature

Irregular menstrual periods or fertility issues in females

Low blood sugar (hypoglycemia) in infants

Dehydration and salt-wasting

Diagnosis:

If you suspect you may have CAH or have a family history of the condition, it is important to consult with a healthcare professional. They will typically perform a thorough evaluation, which may include:

Reviewing your medical history and symptoms

Physical examination, including assessing genitalia in females

Measuring hormone levels in the blood

Genetic testing to identify specific gene mutations

Treatment and management:

Once diagnosed, treatment for CAH aims to replace or supplement the deficient hormones. This often involves taking oral medications, such as glucocorticoids and mineralocorticoids, to regulate hormone levels. Regular monitoring and follow-up with healthcare professionals are crucial to ensure appropriate hormone balance and manage any potential complications.

Conclusion:

If you experience any of the symptoms associated with CAH or have concerns about your adrenal gland function, it is essential to seek medical advice. A healthcare professional can evaluate your symptoms, perform necessary tests, and provide appropriate guidance and treatment options. Early diagnosis and management of CAH can help individuals lead healthier lives and prevent potential complications.

Diseasemaps

Posted Jun 12, 2018 by Dena 3550

There are two main versions. If you've got The classic which is the one I've got (aka the nasty horrible worst of the worst version) and you're more than a fortnight old and still alive then you'll know you've got it, although there are vast tracts of time when you feel almost well like most people you can be sure it will remind you of it's presence especially if you try and show off and push it a bit.
Then there is the non classic or secondary version which is on a spectrum from making you feel generally off and fatigued and sick most of the time all the way to just feeling mildly but constantly irritated. It is more common if you have a family member already with it, especially one with the classic version, but if you think you might have it, then ask for a blood test.
The classic and non classic can't overlap, that is, the non classic can't develop into the classic and (unfortunately) neither can the classic turn into the non classic.

Posted Jun 17, 2020 by Sarah L 1200