Rare Endocrine Genetic Diseases

A rare disease is defined as a disease or disorder that affects fewer than 200,000 Americans at any given time. Among these, according to the National Institutes of Health (NIH), are more than 175 distinct rare diseases that affect the endocrine system.Their symptoms may seem vague, which can make it challenging to determine exactly what is wrong. Such “medical mysteries” often leave physicians puzzled and patients going visiting doctor after doctor, searching for answers with no clear diagnosis. Learn more about rare endocrine disorders from the NIH's Genetic and Rare Disease Information Center.

In many cases, endocrinologist are the unsung heroes who see the pattern in a host of odd or unique symptoms. They solve the puzzles that otherwise would leave many physicians baffled and their patients suffering.


  • Condition


    Acromegaly is a rare but serious condition caused by growth hormone excess and affects children and adults differently. Each year, about three new cases of acromegaly occur for every million people.

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  • Condition

    Adrenal insufficiency (Addison's disease)

    There are two types of adrenal insufficiency. This rare condition should not be confused with adrenal fatigue (which is not a true medical condition). Learn the causes, symptoms, diagnosis, and treatment of adrenal insufficiency.

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  • Condition

    Cushing disease

    What is Cushings Disease and how is it different from Cushings Syndrome? This rare pituitary condition affects 10 to 15 people per million every year. Learn about Cushings disease, including its causes, symptoms, and treatment options.

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  • Condition

    Cushing Syndrome

    Cushing syndrome consists of the physical and mental changes that result from having too much cortisol in the blood for a long period of time. Learn the causes, symptoms, diagnosis, and treatment of Cushing syndrome.

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  • Condition

    Diabetes Insipidus

    Diabetes insipidus (DI) is a rare condition that leads to frequent urination it is not related to diabetes mellitus (type 1 and type 2 diabetes). Learn about the causes, symptoms, and treatment options.

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