Doctor Thomas Addison described a series of symptoms in patients who presented a malady of the adrenal glands. The resulting disease now bears his name, though the symptoms were described earlier by a colleague of his. However, Addison’s colleague failed to connect the symptoms to adrenal failure. This and other diseases, such as Salt-Losing Adrenogenital Syndromee, are treatable with Florinef.

We often name a disease or condition after the physician most closely linked to its discovery and description, but not always. Another method is to name the disease for its effects, which is the case with Salt-Losing Adrenogenital Syndrome. Here, the disease is the result of recessive genetic inheritance resulting in the adrenal glands’ malformation.

The result of the malformation is the inability to produce physiologically adequate quantities of the chemical cortisol. The body senses this deficiency and compensates by increasing the production of corticotropin, the hormone which stimulates cortisol production. Unfortunately for these patients, corticotropin also stimulates the production of other hormones, some of which are similar to testosterone, the male hormone.

The overproduction of these hormones in the developing fetus results in a syndrome called virilization which results in an enlargement of the external reproductive organs to the extent that females born with the disease suffer from gender misidentification. In both male and female patients, children may grow alarmingly rapidly and enter puberty early. Because the syndrome causes rapid bone maturation, the patients are almost universally shorter in stature as adults.

Female patients suffer from a disproportionately egregious physical effect of the disease owing to the development of characteristics usually associated with masculine development. Early development of body hair and the appearance of facial hair can be very distressing to the female patient and her family. In addition to the reproductive disfigurement, a deeper voice and increased acne may arise. Puberty is reached earlier but usually the female patients do not menstruate.

Adrenal insufficiency diseases lack the increased or hyper-pigmentation common in those suffering from Addison disease, but the loss of salt through the urine is a major factor which must be addressed in treatment. These patients also crave salt in their foods, yet actually display low blood pressure in general, an indication that the sodium has been purged by the body.

An Addisonian crisis is a medical emergency requiring immediate professional medical attention to prevent death. The crisis is actually a constellation of symptoms in a patient who has the adrenal disease. The symptoms are more dire and painful to the patient and include additional conditions such as syncope and fever.

Infants diagnosed with this disease must be treated for the remainder of their life. Initially the concern is to rectify the missing cortisol and correct the overproduction of corticotropin. This will allow the body to return to a semblance of normal function. Later, the patient will need to continue to be treated to compensate for the lack of aldosterone with a medication like Florinef.

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