Rare Disease Daily #2: 11-beta-hydroxylase Deficiency
Updated: May 11
The National Center for Advancing Translational Sciences describes 11-beta-hydroxylase deficiency as a Congenital adrenal hyperplasia (CAH). It is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. In this condition, the adrenal glands produce excess androgens (external gonad sex hormones). This condition is caused by genetic changes in the CYP11B1 gene and is inherited in an autosomal recessive pattern. There are two types, the classic form and the non-classic form. People with internal gonads with the classic form have ambiguous external genitalia with normal internal reproductive organs, those with the non-classic form of 11-beta-hydroxylase deficiency have normal genitalia. The early growth spurt can prevent growth later in adolescence and lead to short stature in adulthood. About two-thirds of individuals with the classic form have high blood pressure which develops in the first year of life. As affected people with internal gonads get older, they may develop excessive body hair growth and irregular menstruation. People with external gonads with the non-classic form do not typically have any signs or symptoms except for short stature. High blood pressure is not a feature of the non-classic form.
Merck Manuals describes the diagnosis process as a “measurement of cortisol, its precursors, and adrenal androgens and sometimes by measuring 11-deoxycortisol after adrenocorticotropic hormone administration.”
Fewer than 5,000 people in the US have this disease, but they deserve all of the respect, care, and attention they can get. You can find resources catered to them at the CARES Foundation and the MAGIC Foundation, linked in the information box.
There is still a lot of research lacking in our understanding of this disorder as well as how to help those who experience it. 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, including myself. 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 #2, 11-beta-hydroxylase deficiency. I’m yannick-robin. Thank you for your time.
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