Biology of DSDs (4) Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia, or CAH, is a group of sex development conditions which affect the adrenal glands and hormone production in both males and females. CAH occurs when genetic mutations cause the adrenal glands to produce excess sex hormones known as androgens.
If you want to help improve medical research and psychological support for individuals with these conditions, you can donate to DSDFamilies (dsdfamilies.org/donate).
Biology of DSDs playlist:
• Biology of Sex Develop...
Transcripts, sources, and membership at:
www.theparadoxinstitute.com/p...
References and additional reading:
[1] NIH. (2020). 21-hydroxylase deficiency. Genetics Home Reference, National Library of Medicine.
[2] LOCAH. (2018). The Intersex Masterpost. Medium.
[3] Witchel, S. (2018). Disorders of sex development. Best Practice and Research in Clinical Obstetrics and Gynecology, 48, 3.
[4] NIH. (2019). Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Genetic and Rare Diseases Information Center.
[5] Falhammar, H., et al. (2012). Clinical outcomes in the management of CAH. Endocrine, 41.
[6] Gidlof, S., et al. (2013). One hundred years of CAH in Sweden, a retrospective. Diab & Endocr, 1(1).
[7] Gliban, D., et al. (2014). Health related quality of life of children and adolescents with CAH in Brazil.
[8] Kovacs, J., et al. (2001). Lessons From 30 Years of Clinical Diagnosis and Treatment of CAH. Clinic Endoc.
[9] Nordenstrom, A., et al. (2010). Sexual function and surgical outcome in women with CAH. J Clin Endocrinol.
CAH support groups and foundations:
[1] CARES Foundation (www.caresfoundation.org)
[2] Living With CAH (www.livingwithcah.com)

[@HorseyWithNoNamey]

I wished TRAs wouldn't weaponize DSDs for their cause. Thanks for humanizing intersex individuals again!

[@christmastree6817]

omfg exactly i get so sick of that

[@chris2444]

I'm the writer of the Intersex Masterpost on Medium and wanted to personally thank you for continuing to spread education and awareness on sexual development conditions. It's great to see more voices giving more accurate scientific information whereas in the past intersex discussions centered on appearance or gender identity. With genetic and biological knowledge we can help people see those of us with sexual conditions as less abnormal, and are able to help the next generation grow with informed parents and doctors who will keep them healthier and with higher self esteem than those of us who came before. Keep up the great work!

[@ParadoxInstitute]

Thank you so much, for both your work and the comment! I wholeheartedly agree. --Zach

[@briiibriiibooo]

This channel gives me hope in humanity and logic

[@stefanmckannon1634]

Been a bitch dealing with the salt-wasting form plus the mutilation, and let's not forget the shaming and gender 'training' from church/family and the threats, humiliation and harassment from many of my peers. That being said, you taking the time to express the difference between necessary vs unnecessary treatment as well as voicing the wrongs of genital mutilation deserves some real recognition. Thank you.

[@faverett]

Thank you for this series!

[@philipmathew7940]

Dude this is explained so well
Keep it up

[@TheHammersongs]

Thanks for the video! I have one question, though:
Since the genetic mutation is located on the X chromosome, there should be more males with the condition than females, right? As far as I know, males are more sensitive to X-chromosomal conditions since they don't typically have a second X to outbalance the mutation's effects.

[@ParadoxInstitute]

Forgot to specify in the video animation, but the gene mutation for 21-hydroxylase deficiency occurs on chromosome 6, not on the X chromosome. If the mutation was inherited from the X chromosome, you would be absolutely correct that males would be more likely to have CAH.

[@jayjee735]

Will you be covering PMDS in this series?

[@ParadoxInstitute]

Not for this series, but PMDS simply causes vestigial Mullerian structures (such as a partial uterus) to remain in males. PMDS is always a clear male sex development condition, and results from a mutation in the gene which codes for anti-Mullerian hormone. Without AMH, parts of the Mullerian structure remain (albeit, non-functioning) alongside the fully developed Wolffian structure.
For more on this from the National Institutes of Health: medlineplus.gov/genetics/condition/persistent-mullerian-duct-syndrome/

[@atticstattic]

Adrenal has a long 'e'...