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- Congenital Adrenal Hyperplasia Insights
Congenital Adrenal Hyperplasia Insights
This week's must-know community updates, latest research & events
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Apply now: feature your voice in our cell & gene therapy series Cell and gene therapies are transforming rare disease treatment, offering new hope where options were once limited. But how do they work, and what choices exist for your community? We're launching a special content series to help our 15k+ readers navigate this evolving landscape – and we need your voice! Be part of the conversation, whether you are: • A patient or carer • A patient support group • Developing cell & gene therapies • Administering cell & gene therapies 📅 Enquiries close: March 12 Let's educate, advocate and drive change together. | |||||||||
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Latest ResearchIn a study by Krishnan et al. (2025), researchers examined the long-term outcomes of feminizing genitoplasty in patients with congenital adrenal hyperplasia (CAH). The retrospective study included 43 patients who had undergone the procedure, most before the age of one. Findings revealed that 63% of these patients did not require further surgeries after the initial reconstruction. However, among the post-menarchal patients, there were instances of vaginal stenosis and menstrual obstruction, leading to additional surgeries. The study also found that screening examination under anesthesia (sEUA) for asymptomatic patients might be unnecessary, as it rarely led to further surgery recommendations. The research highlighted the importance of continued observation and uniform gynecologic care to better understand the outcomes of feminizing genitoplasty in CAH patients. Despite the majority not needing additional surgeries, some patients did experience complications such as vaginal stenosis, menstrual obstruction, and dyspareunia (painful sexual intercourse). The study by Krishnan et al. suggests that sEUA could be reserved for symptomatic patients due to the low rate of abnormal findings in asymptomatic individuals. The research underscores the need for more comprehensive follow-up and documentation to improve care for CAH patients after genitoplasty. | |||||||||
Community News
Join us for a meeting in London in June 2025! We'll be covering topics including new treatments, quality of life and health through the ages.
We encourage you to learn more about how to be prepared in the event of an emergency, by visiting our webpage on the CARES website at: https://caresfoundation.org/be-prepared-in-an-emergency/
Thank you to the Geletko Girls for sharing their story and advocacy efforts with us! Make sure to wear your blue jeans to celebrate rare genes tomorrow, February 28, 2025 as part of Rare Disease Day! Visit: https://caresfoundation.org/rare-disease-day-2025/ to learn more. | |||||||||
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