Congenital Adrenal Hyperplasia (CAH) Treatment in Singapore

Congenital Adrenal Hyperplasia (CAH) is a group of inherited conditions that affect hormone production in the adrenal glands, which help regulate metabolism, blood pressure, and the body’s response to stress. A deficiency in specific enzymes, most commonly 21-hydroxylase, disrupts this balance, leading to reduced cortisol levels. The pituitary gland responds by increasing adrenocorticotropic hormone (ACTH) production, overstimulating the adrenal glands and triggering excess androgen release. These hormonal imbalances can influence development before birth and continue throughout life, with symptoms varying based on the specific enzyme deficiency and severity of the condition.

Dr Donovan Tay

Senior Consultant Endocrinologist

Dr Ben Ng

Senior Consultant Endocrinologist

Symptoms of Congenital Adrenal Hyperplasia

The symptoms of CAH vary based on the severity of hormone imbalance and the age at which they appear. Some symptoms are noticeable at birth, while others develop later in life.

Ambiguous Genitalia in Females

High androgen levels during foetal development can cause external genitalia to appear more masculine, including clitoral enlargement and labial fusion. Internal reproductive structures remain unaffected.
Early or Delayed Puberty

Some children, especially males, may develop secondary sexual characteristics earlier than expected, such as pubic hair growth, voice deepening, and rapid height increase. In contrast, certain forms of CAH delay puberty.
Short Adult Height

Early childhood growth spurts may lead to premature fusion of growth plates, resulting in a shorter adult height.
Adrenal Crisis

Severe forms of CAH, especially salt-wasting CAH, can lead to adrenal crises with dehydration, vomiting, low blood pressure, and shock.
Salt-Wasting

Some newborns lose excessive sodium, leading to dehydration, poor feeding, weight loss, and abnormal heart rhythms.
Skin Changes

Increased androgens can cause acne, oily skin, and excessive hair growth (hirsutism) in both males and females.
Fertility Challenges

Some individuals experience irregular menstrual cycles, ovulatory dysfunction, or testicular adrenal rest tumours (TARTs), which can affect fertility.

Causes and Risk Factors

CAH results from inherited genetic mutations that affect hormone production in the adrenal glands, altering cortisol and aldosterone levels.

Genetic Mutation

The most common cause is a mutation in the CYP21A2 gene, affecting the 21-hydroxylase enzyme involved in cortisol production.
Family History

A family history of CAH increases the likelihood of carrying the genetic mutation, making genetic counselling beneficial.
Autosomal Recessive Inheritance

CAH is inherited in an autosomal recessive pattern, meaning a person must inherit two mutated copies of the gene—one from each parent—to develop the condition. Carriers with a single mutated gene do not experience symptoms but can pass the mutation to their children.

Diagnostic Methods

Newborn Screening

Many countries conduct routine newborn screening for CAH by measuring 17-hydroxyprogesterone (17-OHP), a precursor hormone that builds up when 21-hydroxylase is deficient. If levels are elevated, additional tests confirm the diagnosis and determine the severity of the condition.

Blood Hormone Tests

Cortisol, aldosterone, and androgen levels are measured to determine hormone imbalances. An ACTH stimulation test may be performed, where synthetic ACTH is administered and adrenal response is evaluated.

Genetic Testing

DNA analysis detects mutations in genes responsible for CAH, confirming the diagnosis and identifying carrier status for family planning. Genetic testing can also help predict disease severity.

Prenatal Diagnosis

For pregnancies at risk, amniocentesis or chorionic villus sampling can assess foetal DNA for CAH mutations. Maternal blood tests measuring foetal steroid levels may provide additional indicators.

Physical Examination

Growth patterns, blood pressure, and signs of androgen excess are evaluated. Bone age X-rays help determine early skeletal development and premature growth plate fusion.

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Treatment Options

Treatment focuses on restoring hormonal balance and preventing complications. Medication is adjusted for each individual, and surgical options may be considered in specific cases.

Hormone Replacement Therapy

Glucocorticoids, such as hydrocortisone, replace cortisol to regulate ACTH and androgen production. Dosages are adjusted based on growth, stress levels, and development.

Mineralocorticoid Replacement

Fludrocortisone helps maintain sodium and fluid balance in individuals with salt-wasting CAH. Sodium chloride supplements may be needed in infancy.

Adrenal Crisis Prevention

Stress-dose steroids are prescribed during illness or surgery when the body requires more cortisol. Emergency hydrocortisone injections are provided for severe cases.

Surgical Considerations

Some females with ambiguous genitalia may consider reconstructive surgery based on individual preferences and medical recommendations. Ethical considerations regarding early surgery continue to be debated.

Fertility Treatments

Hormonal therapy and assisted reproductive techniques can improve reproductive function in individuals with fertility concerns.

Long-Term Management

Long-term management of CAH requires regular monitoring of hormone levels, growth patterns, and medication adjustments. Blood tests help assess adrenal function and ensure optimal glucocorticoid and mineralocorticoid replacement. Treatment is adjusted throughout different life stages, including childhood growth, puberty, and adulthood. Genetic counselling may be considered for family planning. Ongoing follow-ups with an endocrinology specialist help maintain hormonal balance and prevent complications.

Frequently Asked Questions

Can CAH affect body weight and metabolism?

Glucocorticoid therapy in CAH can affect metabolism, sometimes leading to increased appetite and weight gain if not properly managed. Adjusting medication doses appropriately and following a balanced diet can help maintain a healthy weight.

Are individuals with CAH at risk for adrenal tumours?

Males with CAH may develop testicular adrenal rest tumours (TARTs), which can impact fertility. Routine ultrasound screening helps detect and manage these growths.

Are there dietary recommendations for people with CAH?

Individuals with CAH, particularly those with salt-wasting forms, may require adequate salt intake. A diet rich in protein, healthy fats, and complex carbohydrates helps maintain metabolic balance, while excessive refined sugars should be limited to avoid unnecessary weight gain.

Dr Ben Ng

Senior Consultant Endocrinologist

As a senior consultant endocrinologist with over 20 years of clinical experience, Dr Ben Ng provides comprehensive care for patients managing various endocrine conditions. His expertise includes the diagnosis and treatment of diabetes, thyroid disorders, obesity, and a range of other metabolic and endocrine conditions.

Dr Ben Ng Jen Min graduated from the Queens University of Belfast Northern Ireland, United Kingdom (UK).
He completed his postgraduate training with the certificate of completion of training (CCT) from the Royal College of Physicians (UK) with dual accreditation in diabetes and endocrinology and in general internal medicine.
In 2010, he was awarded an MD with honours by the University of Hull, UK, in recognition for his research in diabetes mellitus

Dr Donovan Tay

Senior Consultant Endocrinologist

As a senior consultant endocrinologist with over 20 years of clinical experience, Dr. Donovan Tay provides comprehensive care for patients managing various endocrine conditions. His expertise includes the diagnosis and treatment of diabetes, thyroid disorders, osteoporosis, and a range of other metabolic and endocrine conditions.

Dr. Donovan Tay graduated from the National University of Singapore (NUS) and obtained his membership in the Royal College of Physicians (UK), Master of Medicine (NUS), and Master of Clinical Investigation (NUS).
After completing training in endocrinology, he was conferred as a Fellow of the Academy of Medicine, Singapore (FAMS).
He further specialised in endocrinology with a fellowship at the prestigious Columbia University Medical Centre in New York City.

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