​Non-Classic Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is a collection of genetic conditions that limit your adrenal glands' ability to make certain vital hormones, which can cause problems with normal growth and development in children, including normal development of the genitals. It affects both males and females.

There are two major types of congenital adrenal hyperplasia which are classic congenital adrenal hyperplasia and non-classical congenital adrenal hyperplasia (NCAH). Classical CAH is more severe and is usually detected in infancy or early childhood, whereas non-classical CAH is milder and only manifests symptoms in late childhood or early adulthood.​

The common symptoms of NCAH include:

  • Premature puberty (phallic enlargement with pre-pubertal testes in boys)

  • Taller than usual heights

  • Advanced skeletal formation

Signs and symptoms are typically most apparent in adolescent girls and women and often include:

  • Irregular or absent periods

  • Early puberty

  • Severe acne

  • Low bone density

  • Obesity

  • Mood swings

  • Oily hair and skin

  • Body odour

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

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

  • Infertility​


If your child is experiencing any of the above symptoms, please make an appointment to consult with one of our expert medical staff working with the Children's Hospital Service Line at The Aga Khan University Hospital. Additionally, if you're pregnant and fall in a high-risk group for CAH because of your medical history, ask your doctor working with the Women's Health Care Service Line at The Aga Khan University Hospital about genetic counselling. You can be assured of receiving multidisciplinary care under one roof at the only internationally accredited hospital in Pakistan.​
Your time with your doctor maybe limited, so make sure to prepare for your visit beforehand. Here are some tips to help get you started.​

The diagnosis of NCAH usually involves hormone measurements combined with clinical evaluation, including history and physical examination. The most common tests include:

  • Physical exam: Your child's doctor will examine your child and evaluate his or her symptoms. If, based on these findings, your doctor suspects NCAH the next step will be to confirm the diagnosis with blood and urine tests.

  • Blood and urine tests: Tests used to diagnose NCAH measure levels of hormones manufactured by the adrenal glands, which are cortisol, aldosterone and androgens. A diagnosis can be made when there are abnormal levels of these hormones.

  • Bone age test: Your doctor can also a bone age test, which is an X-ray of your child’s hand and wrist that will tell whether any high hormone levels are affecting his adult height potential.​


NCAH can commonly be treated using medications. In most cases, your child's doctor working with the Children's Hospital Service Line at The Aga Khan University Hospital, will prescribe replacement hormone medication to boost the levels of deficient hormones in your child and restore them to normal levels. Medications include hormone replacement oral drugs on a daily basis.

These types of medications cause side effects, especially if given in high doses over a long term. Your doctor will monitor your child for medication side effects, such as the loss of bone mass and impaired growth. He or she may also order regular blood tests to see if the dosage of medication needs adjusting. Over time, your child may be able to stop taking his or her replacement hormone medications if the disease is manageable.​


The Aga Khan University Hospital offers various support services to help with managing or recovering from the disease or condition. These include but are not limited to nutrition, physiotherapy, rehabilitation, specialized clinics and some patient support groups. Your doctor or nurse will advise you accordingly.

The Aga Khan University Hospital offers financial assistance to those who are in need and fulfil the eligibility criteria. For further information, you can contact the Patient Welfare Department. You can find the contact number of the Patient Welfare Department in the 'Important Numbers' section on the website homepage.

The financial counselling staff is available during office hours, at the main PBSD (Patient Business Services Department), to answer your financial queries on treatments' costs and authorize admissions on partial deposit as per hospital policies allow. The financial counsellor in the emergency room is open 24/7. You can find the contact number of the Patient Business Services in the 'Important Numbers' section on the website homepage.​


Your doctor and or nurse will give you specific instructions about the prescribed medication. Please ensure that you take or use the prescribed medicine as advised. It can be dangerous to your health if you self-prescribe. Please inform the doctor or nurse beforehand if you have experienced any adverse reactions to any medications in the past. If you experience any symptoms of drug poisoning, overdose or severe reaction please contact the Pharmacy Service at The Aga Khan University Hospital immediately. You can find the contact number of the Pharmacy Services in the 'Important Numbers' section on the website homepage.​

​


 


 

The information provided on our website is for educational purposes and not intended to be a substitute for medical advice, diagnosis or treatment. You should always seek the advice of your doctor or other healthcare professional provider.