Non-Classical Congenital Adrenal Hyperplasia- An Overview!

NCCAH stands for Non- Classic Congenital Adrenal Hyperplasia. It is an autosomal recessive endocrine disorder where a person inherits two abnormal genes from each parent. This disease becomes evident in late childhood or early adulthood.¹

Non-classic CAH affects approximately 1 in 100 women in the general Indian population.²

Let’s understand more about NCCAH by taking a look at its cause.

What Causes NCCAH?

NCCAH is an inherited condition caused by a mutation in the gene which codes for the enzyme steroid 21-hydroxylase.³ This specific enzyme is responsible for converting 17-OHP (a precursor of cortisol) into cortisol.¹

When 21-hydroxylase does not work effectively, it results in impaired or no conversion of 17-OHP to 11 deoxycortisol and of progesterone to deoxycorticosterone. This blockage of steroid conversion results in increases production of androgen receptors.²

This causes an increase in the levels of testosterone and other androgens in the female body. Excessive amount of androgens in the female body can trigger the development of male secondary sexual characteristics.⁴

NCCAH Symptoms

Usually, females produce low levels of androgens, but an overproduction of these can lead to the symptoms of NCCAH.

Symptoms of NCCAH can be hard to identify and diagnose. It is often confused with PCOS or Polycystic Ovary Syndrome. 

Now, let’s take a look at its symptoms:⁵

• Oily Skin⁶
• Acne⁶
• Excessive hair growth on face and body or hirsutism⁶
• Sudden height spurt in adolescence but short stature in adults⁶
• Scalp hair loss or Androgenic alopecia⁶

At times, NCCAH can also cause menstrual irregularities⁶ and decrease the chances of conception in females. NCCAH triggers production of higher levels of progesterone during the follicular phase of the menstrual cycle.⁵ This can result in inadequate endometrial maturation, therefore causing impaired embryo implantation.

NCCAH Diagnosis

If you are experiencing any of the above-mentioned symptoms, you may need to consult your primary healthcare provider as soon as possible. In addition, your doctor may refer you to a gynecologist who will be able to do a better analysis of your health. And they may recommend a hormone test.

17-OHP Testing ⁷- This test measures the amount of 17-hydroxyprogesterone (17-OHP) in the blood. 17-OHP is a hormone made by the adrenal glands - two glands located on top of the kidneys. 

If results show high levels of 17-OHP, it's likely you have NCCAH. Usually, very high levels means a more severe form of the condition, while moderately high levels usually means a milder condition. 

Clinical guidelines recommend a baseline non-stimulated value of 17-OHP as the screening tool for NCCAH. Morning 17 OHP levels >6 nmol/L in the follicular phase in menstruating females should lead to further evaluation. As in adults, a level greater than 6.06 nmol/L accounts for about 90% of NCCAH cases.⁵ 

If the 17-OH test is positive then a follow up test, known as the ACTH⁸ (adrenocorticotropic hormone) stimulation test, is done to confirm the diagnosis. This test measures how well the adrenal glands respond to ACTH hormone. 

Furthermore, your doctor may recommend genetic testing for a definitive diagnosis for NCCAH.⁹ 

In addition, you can get tested using LifeCell’s InferGenes test! It helps you understand the root cause of the condition by analyzing your genes.

NCCAH Treatment And Managing Symptoms

Unless the individual is symptomatic, treatment is not always indicated. Treatment is usually recommended to reduce symptoms caused due to high levels of androgens with low dose glucocorticoids.¹⁰

However, hirsutism (a condition in women that results in excessive growth of dark or coarse hair in a male-like pattern), is difficult to treat with glucocorticoid treatment.¹⁰

In addition to glucocorticoid therapy, another common treatment option for young females with NCCAH is using oral contraceptive pills.⁵

Conclusion

NCCAH is considered as the more frequent and milder form of Congenital Adrenal Hyperplasia. Given the multiple factors affecting the high levels of androgens in your system, it is advisable to adopt a healthier lifestyle by improving your dietary habits, increasing exercise, and aiming at weight reduction. Moreover, in certain cases, psychological support is often beneficial.⁵ You should talk to your doctor and get their recommendations on managing your symptoms, as every individual may react to NCCAH differently.

Furthermore, if you’re planning to start your motherhood journey then keeping a track of your hormones could aid with your fertility status. An easy way to track your hormones is by testing with LifeCell’s OvaScore - a convenient, comprehensive & confidential way to get insights into your hormones from the comfort of your home! This test checks for 9 significant hormones that are linked to reproductive conditions like PCOS, Primary ovarian insufficiency, NCCAH, Hyperprolactinemia, Thyroid health and General wellness. With just a single test, you can understand your fertility status, plan your family goals, and explore options like egg freezing, if necessary. 

So, why wait any longer? Book your OvaScore Test Kit now!