Dr. Kamaraj Hospital
HomeFemale InfertilityCongenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia (CAH) is a genetic condition that impacts the adrenal glands, which are responsible for the production of essential hormones such as aldosterone, cortisol and androgens. It can lead to a number of symptoms, including hormonal imbalances, enlarged adrenal glands, and unusual development of sexual features. If left untreated, congenital adrenal hyperplasia can be fatal in some cases. However, with early diagnosis and medical intervention, the condition can be effectively managed.
Dr. Kamaraj congenital adrenal hyperplasia treatments

Types of Congenital Adrenal Hyperplasia

The two major types of congenital adrenal hyperplasia are:

Classic CAH: This severe form is caused by a significant deficiency of the 21-hydroxylase enzyme, leading to reduced levels of cortisol and aldosterone. Classic CAH is further divided into:

Detail  

Salt-wasting CAH

This results in a severe shortage of aldosterone, which causes life-threatening salt loss and dehydration, as the kidneys cannot retain sodium.

Detail  

Simple-virilizing CAH

This form leads to reduced cortisol production, but there is enough aldosterone to prevent salt loss. However, the excess production of androgens causes early puberty.

Non-Classic CAH: This milder form is caused by a partial deficiency of the 21-hydroxylase enzyme and often appears later in life. Cortisol levels are typically normal or only slightly reduced, but increased androgen production leads to symptoms such as early puberty or excessive body hair.

Symptoms of Congenital Adrenal Hyperplasia

The symptoms of congenital adrenal hyperplasia can vary depending on the specific form and severity of the condition, but common symptoms include:

Symptoms of Classic CAH
  • Ambiguous genitalia
  • Enlarged clitoris in females
  • Small testes in males
  • Early onset of puberty
  • Severe acne
  • Excessive facial or body hair
  • Dehydration and electrolyte imbalance
  • Vomiting
  • Diarrhoea
Symptoms of Non-Classic CAH
  • Early appearance of pubic hair
  • Excess facial or body hair
  • Rapid growth during childhood
  • Premature completion of growth, leading to short adult stature
  • Moderate to severe acne
  • Male-pattern baldness
  • Irregular menstrual periods

How is Congenital Adrenal Hyperplasia Diagnosed?

Diagnosis of congenital adrenal hyperplasia varies based on the individual’s age:

  • Prenatal: Genetic testing can identify mutations in the genes responsible for producing the 21-hydroxylase enzyme.
  • At Birth: Newborn screening programmes measure hormone levels to detect congenital adrenal hyperplasia early.
  • In Children and Adults: Hormone level tests assess cortisol, aldosterone, and androgen levels. Genetic testing may also be performed to identify specific enzyme deficiencies and confirm the diagnosis.
congenital adrenal hyperplasia symptoms

Congenital Adrenal Hyperplasia Treatment Offered

Congenital adrenal hyperplasia treatment options include:

  • Hormone Replacement Therapy: To replenish the cortisol or aldosterone levels.
  • Medications: To manage symptoms and specific issues caused by hormonal imbalances.
  • Surgery (in some cases): For individuals with ambiguous genitalia or other physical abnormalities.

The Process of Congenital Adrenal Hyperplasia Treatment at KHPL

At KHPL, we follow a structured and individualised approach to treat congenital adrenal hyperplasia. Here's an overview of our treatment process:

Step 1:
Consultation and Diagnosis

We start with a thorough consultation, during which our experienced medical professionals will discuss your symptoms and medical history and conduct diagnostic tests, such as blood work and genetic testing.

Step 2:
Personalised Treatment Plan

After a careful evaluation, we create a personalised treatment plan tailored to your condition. This may involve hormone replacement therapy, medications, surgery and other management strategies.

Step 3:
Follow-Up and Support

The team monitors your progress closely and makes any necessary adjustments to your plan for optimal outcomes.

Why Choose Us?

  • Dr. Kamaraj Hospital specialises in men's health, fertility issues, and sexual health. Our experienced team offers specialised care with its patient-centric approach, using advanced diagnostic and treatment methods.
  • You can count on our men's health specialists for the support and treatment you need for conditions like Congenital Adrenal Hyperplasia. We are committed to the highest quality of treatment to help you lead a healthy life.
Dr. Kamaraj - Best Sexologist in Chennai

Need more information?

Don't Delay, Improve your sexual health today!

Book an Appointment
Explore FAQs

FAQ

Which tests are required to diagnose congenital adrenal hyperplasia?
Diagnosing congenital adrenal hyperplasia may involve prenatal tests, such as amniocentesis or chorionic villus sampling (CVS). For adults and children, diagnosis typically includes blood and urine tests to measure hormone levels and genetic testing to confirm the condition.
CAH is primarily treated with hormone replacement therapy to replace deficient cortisol levels and manage androgen excess. In some cases, additional medications may be required to address specific symptoms or complications related to the condition.
The cost of CAH treatment at KHPL varies depending on several factors, such as the type and severity of CAH, the medications required, and the frequency of follow-up appointments and tests.
Glucocorticoids, such as hydrocortisone, prednisone, and dexamethasone, are commonly used to replace deficient cortisol levels. For individuals with salt-wasting CAH, fludrocortisone is used to help regulate salt balance.
Since CAH is an inherited genetic disorder, it cannot be prevented. However, genetic counselling and prenatal testing can help identify couples at risk of having a child with CAH. Early prenatal diagnosis allows for timely intervention and treatment, which can significantly improve outcomes.

Meet Our Doctor

Infertility Specialist Dr. J S Jeyarani Kamaraj

Dr. J. S. Jeyarani Kamaraj

Infertility Specialist

MBBS degree and advanced qualifications in obstetrics and genecology, including an MD and a Diploma in Gynecology and Obstetrics (DGO)
Best Cosmetic Gynecologist in Chennai Dr. Niveditha

Dr. Niveditha KJ

Cosmetic Gynecologist

MBBS, MS in Obstetrics & Gynaecology, FMAS, and Diploma in Reproductive Medicine (Germany)
Book Online Consultation