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ACTH deficiency, a rare disease confirmed by one blood test

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Abraham Eisenstein, M.D. |
ACTH deficiency
Hormones   The pituitary gland makes or stores many different hormones

The pituitary gland, a small gland at the base of the brain, also known as the "master gland", produces several hormones that stimulate other glands to produce other hormones. When the pituitary gland produces insufficient amount of ACTH hormone, that causes a rare disease ACTH deficiency.

Symptoms of ACTH deficiency most often occur in adults, but this disorder may also be diagnosed in infancy and it affects males and females in equal numbers.

Diagnosing isolated ACTH deficiency can be a challenge due to its non-specific symptoms such as: weight loss, lack of appetite and anorexia, weakness, nausea, vomiting, decreased energy, and low blood pressure. These symptoms are very general, so the diagnosis may be delayed or missed completely.

For example, it's easy to misdiagnose it as a depression or vitamin B deficiency, and lack of appetite may lead us to a completely different direction. Subsequently, the patient is sent for a psychiatric examination or to a gastroenterologist... Since the symptoms are general, it may take longer to come up with the right diagnosis.

In some patients low blood levels of sugar and sodium may occur, but blood potassium levels are typically normal. The pituitary hormone ACTH may be undetectable in blood tests, and the level of the adrenal hormone cortisol is abnormally low.

The disease may be recognized by a hair patterns. Males with this disorder usually have a normal hair pattern, but females may have very little pubic and underarm axillary hair.

We don't know the cause of ACTH deficiency: It may be a defect in the brain’s hypothalamus or in the pituitary gland, but there is a form of ACTH deficiency present at birth tracked to mutations of one gene.

While diagnosing ACTH deficiency, we should pay attention not to confuse it with Addison’s disease (primary adrenal insufficiency) of congenital adrenal hyperplasia (CAH). Those are disorders connected to hormones and in some cases may look similar.

If the doctor suspect it's about ACTH deficiency, blood samples are taken for analysis and we should pay special attention to the level of cortisol in the blood. Cortisol is the hormone produced by the outer portion of the adrenal glands and ACTH regulates its levels.

If cortisol concentration is low, it typically indicates a low concentration of ACTH. To confirm the diagnose, an ACTH stimulation test may be administered.

The treatment for ACTH deficiency is hormone replacement therapy and with that therapy patients can lead a normal life.

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