​Congenital adrenal hyperplasia​

Congenital adrenal hyperplasia is a group of genetically inherited diseases that affects the ability of the adrenal gland to function properly. In most cases, they limit the ability of the adrenal glands to produce adequate amount of cortisol, a hormone that regulates the blood pressure, blood sugar and protects your body against stress. They may also affect the production of aldosterone and androgens, which are steroid hormones and involved in the maintenance of blood pressure and male sex hormones respectively. 

Congenital adrenal hyperplasia can occur in both men and women. They also deter growth and development in children, including normal development of the genitals. 

In congenital adrenal hyperplasia, one of the many enzymes vital for the production of hormones secreted by the adrenal glands are missing or lacking in quantity. These hormones include cortisol, aldosterone and androgens. Children with either both parents having congenital adrenal hyperplasia or both parents being carriers of the genetic defect are at a higher risk of getting this disease. Congenital adrenal hyperplasia can be divided into two categories:

  • Classic congenital adrenal hyperplasia which is a more severe form of the disease. It is usually detected in infancy or early childhood.

  • Non classic congenital adrenal hyperplasia which is a milder form of the disease. It is usually detected in late childhood or early adulthood.​

Symptoms of the disease differ depending on its severity and the age at which it is diagnosed. Milder form of the disease may not be detected until late adolescence. Even in severe cases of the disease, baby boys rarely show any symptoms but girls may have abnormal genitals at birth. 

Symptoms of classic congenital adrenal hyperplasia include:

In infants:

  • Ambiguous genitals in girls

  • Enlarged penis in boys

  • Weight loss

  • Vomiting and dehydration

  • Poor feeding and weight loss

In children and adults:

  • Early onset of puberty

  • Infertility

  • Irregular menstrual cycle in women

  • Rapid growth in children

  • Shorter than average final height in adults

Symptoms of non classic congenital adrenal hyperplasia:

In adolescent girls and women:

  • Irregularity or absence of menstrual periods

  • Infertility

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

In both men and women:

  • Early onset of puberty

  • Severe acne

  • Obesity 

  • Rapid growth in children

  • Shorter than average final height in adults

  • Low bone density​

You can contact a paediatrician working with the Children’s Hospital Service Line or one of our doctors at the Internal Medicine Service Line at the Aga Khan University Hospital, Karachi, the only internationally accredited hospital in Pakistan, for expert opinion if you or a family member are exhibiting the aforementioned symptoms.

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.

Initially, your or your child will be examined by the doctor to notice any symptoms of congenital adrenal hyperplasia. For confirmed diagnosis, a few blood and urine tests may be conducted, to determine the levels of cortisol, aldosterone and androgen in the blood. Abnormal levels of these hormones indicate the presence of the disease. 

After birth, if your child has ambiguous genitals, that make you unsure about the gender, they may have to undergo karyotyping. Karyotyping is a genetic blood test that is used to determine the gender of the child by examining the chromosomes. Pelvic ultrasound may also be conducted to check for the presence of a female reproductive system.

Congenital adrenal hyperplasia can be life threatening if left untreated. Quality healthcare and treatment services provided at the Internal Medicine Service Line​ at the Aga Khan University Hospital, Karachi, can help ensure that your child leads a normal healthy life.

Your treatment options will include:

  • Hormone replacement therapy to replace the levels of deficient hormones such as, hydrocortisone or dexamethasone to replace cortisol, and fludrocortisone to replace aldosterone. Your child may have to take the medications orally every day. They may also have to take a higher dosage in cases of illness or severe stress, including surgery.

  • Regular monitoring by the doctor and blood tests to ensure that the drugs are being given in the correct dosage and not causing any side effects.

  • Constant observation to look for signs of infections or side-effects of the medications, which are usually rare.

  • Surgery for infant girls with ambiguous outer genitals, to correct the appearance and functions of the genitals.

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.