T-MINUS 286 DAYS UNTIL RARE DISEASE DAY
I want to preface with an apology to all intersex and TGNC people that find it hard to access resources that are equitable for them, not gendered and restrictive to a binary. I did my best to help you, if there’s anything I missed please let me know and I will edit accordingly!
The National Center for Advancing Translational Sciences describes an inherited condition that affects sexual development of patients (that are more often than not, assigned male at birth through the observance that a person has external gonads, which is the organ that produces either an ovary or testes. It is important to note that all people of all types naturally produce progesterone, estrogen, and testosterone) with external gonads. People with this condition have testes, but do not produce ‘enough’ testosterone. Most people with this condition are born with external genitalia that appear for that of people with internal gonads, (meaning rather than testes, they appear to have something more along the lines of what would accompany ovaries). In some cases, the external genitalia are ambiguous or appear abnormal in size and/or appearance. During puberty, people with this condition typically go on to develop secondary sex characteristics such as increased muscle mass, deepening of the voice, and development of a body hair pattern that is similar for those of people with testes. 17-beta hydroxysteroid dehydrogenase 3 deficiency is caused by genetic changes in the HSD17B3 gene and is inherited in an autosomal recessive pattern, which means two copies of abnormal genes must be present in order for this to manifest downwards in the family line from parent to child. The Online Mendelian Inheritance in Man® of John Hopkins Uni mentions infertility and hypothyroidism as endocrine features of this disease.
The prevalence of this disease is unknown, though the estimated incidence of this disease is 1 in 147,000 in The Netherlands. Before puberty, a hCG (human chorionic gonadotropin) stimulation test is often necessary for diagnosis, since basal levels may be uninformative. Deficiency of 17-ketosteroid reductase is often misdiagnosed in infancy and detected at puberty in “males” either raised as “females” and develop hirsutism and primary amenorrhoea, or raised as “males” and have gynecomastia and incomplete “male genital development”.
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 #12, 17-beta Hydroxysteroid Dehydrogenase 3 Deficiency
I’m yannick-robin. Thank you for your time.
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