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  • Writer's pictureyannick-robin eike mirko

Rare Disease Daily #11: 17-alpha-hydroxylase Deficiency


The National Center for Advancing Translational Sciences describes 17-alpha-hydroxylase Deficiency as A very rare form of congenital adrenal hyperplasia (or CAH, a genetic disorder where the two adrenal glands at the top of the kidneys don’t work well) characterized symptomatically by deficiency in glucocorticoid (hormones used in the body for inflammatory and autoimmune diseases like prednisone or triamcinolone), hypergonadotrophic hypogonadism (ambiguous genitalia) and severe hypokalemic hypertension (periods of extreme muscle weakness and paralysis)

The prevalence of this disease is 1-9 out of one million. Medscape mentions biochemical testing as helpful in detecting ‘heterozygosity’ in family members of patients with 17-alpha-hydroxylase Deficiency.

There is still a lot of research lacking in our understanding of this disorder as well as how to help those who experience it. It doesn’t matter how small the community is. One person alone deserves research and aid, so why not help these patients? To learn more, visit the links in the episode transcription and do what you can to help organizations working towards solutions through volunteering, donating, and whatever other ways you’ve got.

Rare Disease Daily aims to raise awareness for the community of approximately 30 million US citizens who experience either one or several of the over 7,000 varying rare disorders and diseases, other people like me. We desperately need your resources and help, for the sake of our basic human rights and for access equality, as well as to encourage every listener to investigate whether or not they are rare. Any language originally gendered will be neutralized to the best of my ability.

This was Rare Disease Daily #11, 17-alpha-hydroxylase Deficiency

I’m yannick-robin. Thank you for your time.


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