Brief Answer:
Hello

Detailed Answer:
Hello,

Good day.

Minerelocorticoid ( aldosterone) deficiency with out other hormone deficiency is extremely rare.
Aldosterone is produced in Adrenal gland and help in maintaining blood pressure and in balance of minerals like sodium and potassium.

Aldosterone deficiency develops due to adrenal destruction in infections like tuberculosis, fungal infections and other rare genetic conditions. This can also happen due to rare enzyme deficiencies as well. With this, they usually have other adrenal hormone deficiency as well ( eg: Cortisol deficiency).

I would like to ask few questions:

1) Apart from passing out, did he have symptoms like craving of salt, weight loss, low blood pressure, giddiness on standing up etc?

2) How was his birth, growth and development compared to siblings and peers?
What blood test was done to confirm mineralocorticoid deficiency ?

3) Was the diagnosis made by an endocrinologist ?

4) what all blood tests were done?

Usually, in mineralocorticoid deficiency, people tend to lose weight, develop craving for salt, and develop low blood pressure especially on standing. In children, there will be failure to thrive.

Blood tests will show low sodium level and high potassium levels. To confirm, we need to do 8 AM Aldosterone and Renin tests. These are blood tests. The aldosterone will be low and Renin will be high. I would like to know if any of these tests were done or not?

Treatment is with moderate intake of salt and with Fludrocortisone. The side effects of fludrocortisone is increase in sodium levels, low potassium and fluid retention and high blood pressure. Brain fog is not a usual side effect.

If the diagnosis is right, he will need medicines. Going with out medicines can case low potassium, which is dangerous.

I would appreciate if you could answer my questions. That will help me to asses further. If you have the reports, could you attach them?

Regards
Binu

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Brief Answer:
Hello. Not to worry.

Detailed Answer:
Good day,

Yes, it sounds like he has isolated minerelocorticoid deficiency. Your endocrinologist probably has done all tests before putting him on fludrocortisone. It is generally safe to take it. But need monitoring of serum sodium and potassium and blood pressure 1-2 weeks after starting medicine amd 3 months later. Once he is stabilized, he will start growing normally and will gain weight. He could go back to his sports and that will keep him active and happy. I agree that this condition is often missed and misdiagnosed as psychosomatic probblems. This is due to the rarity of disease and a non endocrinologist doctor often will not suspect this.

I feel the twin brother should get a Blood pressure assessment ( lying and then standing) and serum sodium and Potassium. If sodium is on the lower side and potassium on higher side, then it is surely recommended to test him for minerelocorticoid deficiency.

I noted that your son is 17 years old now. It has been reported that some boys do recover spontaneously during adult life. But most people will have to continue medicine life long and it is generally safe and they do have a normal life span and family life.

The risk of stopping medicine include weght loss, high potassium levels ( this can cause irregular heart beats), and sometimes death too. Having diagnosed to have minerelocorticoid, it is better to take Fludrocortisone.


Please do not feel stressed. I agree that it is rare, but he could lead a normal life whilst on minerelocorticoid replacement. Discuss with your endocrinologist. If he is too busy, please find another one who can spend some time with you and explain the cause of this disease and other issues.

Regards

Binu

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