Differential Diagnosis of PCOS

by Dr. Sari Cohen
from PCOSA Today

Before a woman assumes she has PCOS, it is important to rule out other diseases that cause similar symptoms. PCOS is notoriously difficult to diagnose; it is a diagnosis of exclusion. In other words, other diseases such as Congenital Adrenal Hyperplasia (CAH) and Cushing’s syndrome must be ruled out. Below is an outline of these two disorders that can present like PCOS.

Congenital Adrenal Hyperplasia (CAH):

CAH is a genetic disease that results in under-production of the hormones cortisol and/or aldosterone. Cortisol, released by the adrenal gland, has many functions in the body. It is primarily known as a “stress hormone.” Aldosterone, also produced by the adrenal gland, increases blood pressure by regulating sodium and potassium levels.

Some types of CAH present in infancy while others manifest in adolescence. The symptoms of CAH depend on the degree of genetic mutation and the accumulation of hormones that are precursors to cortisol and aldosterone. Sometimes females with CAH are born with ambiguous genitalia due to excess androgen (male hormone) output from the adrenal glands.

The most common type of CAH is a deficiency of the enzyme 21-Hydroxylase. Girls with mild forms of 21-Hydroxylase deficiency may not develop symptoms until late childhood: early pubic hair growth, enlarged clitoris, and accelerated growth. Milder forms of CAH may not present until adolescence or adulthood showing infrequent or irregular periods, excess hair growth (hirsutism), and infertility.

Male infants with CAH may present with failure to thrive, vomiting, dehydration, low blood pressure, abnormal levels of sodium and potassium, and shock. Males with milder cases of CAH can present in childhood with early pubic hair growth, enlarged penis, and accelerated growth.

High or low blood pressure may be evident in people with CAH, depending on the type. In addition, patients with decreased aldosterone levels will show signs of dehydration, low sodium levels in the blood (hyponatremia) and high potassium levels in the blood (hyperkalemia).

To diagnose CAH, doctors consider clinical symptoms along with laboratory measures like 17-hydroxyprogesterone, cortisol, aldosterone, sodium and potassium levels, and perhaps a corticotropin stimulation test to demonstrate accumulation of precursor hormones.

Cushing’s syndrome:

Cushing’s syndrome is characterized by excess levels of cortisol. Many factors can cause this hormone imbalance. When the excess cortisol is caused by a pituitary tumor that secretes ACTH, this is known as “Cushing’s disease.” ACTH (adrenocorticotropic hormone), released by the pituitary gland, boosts the production of corticosteroids, of which cortisol is one. Sometimes tumors in the lung, pancreas, or other organs can release excess ACTH causing Cushing’s disease.

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Next Steps

Becoming victorious over the symptoms of Polycystic Ovary Syndrome is not easy, but you can overcome your PCOS symptoms to live the life you deserve.

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