The key difference between congenital adrenal hyperplasia and hypoplasia is that congenital adrenal hyperplasia is an inherited genetic disorder where the adrenal gland is larger than usual. In comparison, congenital adrenal hypoplasia is an inherited genetic disorder where the adrenal gland is smaller than usual.
Congenital adrenal hyperplasia and hypoplasia are two inherited conditions due to problems in the adrenal glands. In congenital adrenal hyperplasia, the body is missing an enzyme that stimulates the adrenal glands to release the cortisol hormone. As a result, the body is less able to cope with physiological stress. It also increases the level of androgen or male hormones. On the other hand, congenital adrenal hypoplasia is characterized by adrenal insufficiency and a shortage of male sex hormones.
CONTENTS
1. Overview and Key Difference
2. What is Congenital Adrenal Hyperplasia
3. What is Congenital Adrenal Hypoplasia
4. Similarities – Congenital Adrenal Hyperplasia and Hypoplasia
5. Congenital Adrenal Hyperplasia vs. Hypoplasia in Tabular Form
6. Summary – Congenital Adrenal Hyperplasia vs Hypoplasia
What is Congenital Adrenal Hyperplasia?
Congenital adrenal hyperplasia is an inherited genetic disorder where the adrenal gland is larger than usual. In this condition, the body lacks an enzyme that stimulates the adrenal glands to release cortisol hormone. Therefore, the body is less able to cope with physiological stress due to less release of cortisol. It also causes an increase in the production of male sex hormones called androgens. This condition is inherited in an autosomal recessive pattern. This causes male characteristics to appear early in boys or inappropriately in girls.
The most common cause of congenital adrenal hyperplasia is the lack of an enzyme called 21-hydroxylase because of a gene mutation in the CYP21 gene. Lack of this enzyme leads to the absence of aldosterone and cortisol. However, androgen production is unaffected. The signs and symptoms of this condition may include dehydration, poor feeding, diarrhea, vomiting, heart rhythm problems, low blood pressure, very low blood sodium levels, and low blood glucose.
Figure 01: Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia can be diagnosed through physical examinations, blood tests, and genetic testing. Furthermore, the treatment options for congenital adrenal hyperplasia may include giving corticosteroids, fludrocortisone, salt supplements, oral contraceptive pills, and anti-androgen drugs.
What is Congenital Adrenal Hypoplasia?
In congenital adrenal hypoplasia, the adrenal gland is smaller than usual. This is an inherited genetic disorder that mainly shows X linked recessive pattern. This condition shows both adrenal insufficiency (lack of cortisol) and a shortage of male sex hormones. The signs and symptoms of this condition may include vomiting, difficulty with feeding, dehydration, extremely low blood sugar, shock, underdeveloped reproductive tissues, undescended testicles (cryptorchidism), delayed puberty, and infertility. Moreover, the mutation in the NR0B1 gene is mainly causing adrenal hypoplasia.
Congenital adrenal hypoplasia can be diagnosed through family history, physical examination, blood test, imaging scans, and genetic testing. Furthermore, treatment options for congenital adrenal hypoplasia may include providing glucocorticoids, mineralocorticoids, and androgens.
What are the Similarities Between Congenital Adrenal Hyperplasia and Hypoplasia?
- Congenital adrenal hyperplasia and hypoplasia are two inherited conditions due to problems in the adrenal glands.
- Both conditions can be seen since birth.
- They can cause adrenal insufficiency.
- Moreover, they can be diagnosed through physical examination, blood tests, and genetic testing.
- They are mainly treated by providing the lacking hormones externally.
What is the Difference Between Congenital Adrenal Hyperplasia and Hypoplasia?
Congenital adrenal hyperplasia is an inherited genetic disorder where the adrenal gland is larger than usual. In comparison, congenital adrenal hypoplasia is an inherited genetic disorder where the adrenal gland is smaller than usual. Thus, this is the key difference between congenital adrenal hyperplasia and hypoplasia. Furthermore, in congenital adrenal hyperplasia, the body lacks cortisol and aldosterone but makes more androgen. On the other hand, in congenital adrenal hypoplasia, the body lacks cortisol, aldosterone, and androgen.
The infographic below presents the differences between congenital adrenal hyperplasia and hypoplasia in tabular form for side-by-side comparison.
Summary – Congenital Adrenal Hyperplasia vs Hypoplasia
The adrenal glands produce important hormones such as cortisol, aldosterone, and adrenaline. Congenital adrenal hyperplasia and hypoplasia are two inherited conditions due to problems in the adrenal glands. Both conditions can be present since birth. In congenital adrenal hyperplasia, the adrenal gland is larger than usual. In congenital adrenal hypoplasia, the adrenal gland is smaller than usual. Moreover, in congenital adrenal hyperplasia, the body lacks cortisol and aldosterone but makes more androgen. On the other hand, in congenital adrenal hypoplasia, the body lacks cortisol, aldosterone, and androgen. So, this summarizes the difference between congenital adrenal hyperplasia and hypoplasia
Reference:
1. “Congenital Adrenal Hyperplasia.” Mayo Clinic.
2. “Physiology, Thyroid Stimulating Hormone. “ – StatPearls – NCBI Bookshelf.
Image Courtesy:
1. “Congenital adrenal hyperplasia enzymes” By StarBuG – Own work (CC BY-SA 3.0) via Commons Wikimedia
2. “1818 The Adrenal Glands” By OpenStax College – Anatomy & Physiology, Connexions Web site, Jun 19, 2013. (CC BY 3.0) via Commons Wikimedia