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Rare Disease Daily #2: 11-beta-hydroxylase Deficiency

  • Writer: yannick-robin eike mirko
    yannick-robin eike mirko
  • May 10, 2023
  • 2 min read

Updated: May 11, 2023




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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yannick-robin, is a Manhattan, NYC-based Biawaisa/Yamoká-hu/Maorocoti multidisciplinary artist and activist with a rare disease.
He began working with nonprofits in 2020, most notably working for Imara Jones (one of TIME Magazine's 100 most influential people of 2023), owner of TransLash Media, where trans stories are centered in order to save trans lives. While under her wing, yannick-robin was nominated for a Webby Award as an associate and digital producer for the TransLash Podcast with Imara Jones, worked on The Anti-Trans Hate Machine: A Plot Against Humanity series as a producer and fact checker, and wrote obituaries for their TGNC siblings lost to violence in the United States and its Territories (more on this here). They have since then written for TalkDeath (read Racial Disparities and Discrimination in the Death Care Industry), focusing on Queer and BIPOC end-of-life preparations and equality, as well as making strides as a disability activist within the performance space, being Off-Broadway in the first TGNC Theatre Festival in the professions history, + being the first wheelchair user to perform in several iconic regional theatres of the US while advocating for accessibility for trans and disabled performers and continuing on with activism as a freelance writer and advocate/consultant. They were recently added to the University of Minnesota’s Tretter Transgender Oral History Project for his contributions to the progress for trans rights in death care and theatre. Now offering obituaries, death doulaship, and bereavement counseling for TGNC decedents and their families as well as trans people lost to violence, people with rare diseases, and the disabled. 

for commissions, death care, speaking engagements and more, press the contact button.
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yannick-robin eike mirko is represented by Arise Artists Agency

© 2024 yannick-robin eike mirko

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