POPULARITY
Contributor: Taylor Lynch, MD Educational Pearls: When it comes to hypoglycemia, the age dictates possible causes Neonate: Hormonal deficiency Congenital Adrenal Hyperplasia (21-hydroxylase deficiency, 11β-hydroxylase deficiency) Primary or Secondary Adrenal Insufficiency leading to cortisol deficiency Hypopituitarism Inborn errors of metabolism Systemic infection (Under 30 days old should trigger a full infectious workup) Toddler Accidental ingestions Sulfonylureas such as glipizide or glyburide Older children Addison's Disease (Hypocortisolism) Accidential or intentional ingestions Exogenous insulin How is it diagnosed? Child or infant Glucose
In this episode, we review the high-yield topic of Congenital Adrenal Hyperplasia from the Endocrine section. Follow Medbullets on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets Linkedin: https://www.linkedin.com/company/medbullets
Do you have the latest data on novel therapies for congenital adrenal hyperplasia (CAH)? An expert panel discusses. Credit available for this activity expires: 8/23/25 Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/1001510?ecd=bdc_podcast_libsyn_mscpedu
It's December which means Spotify Wrapped was announced! If you are one of the 2,616 people that had us on your Spotify Wrapped Podcast section, tag us in your story or post for a shoutout on the show! Thanks to Maya, Em, Carly, Allison and LittleDipperPomskies, for already sharing. For those that don't follow us on social media @DNATodayPodcast, here are this year's highlights…So far this year we have produced 1,747 minutes of new content, that's nearly 30 straight hours. And it's more than 98% of other science podcasts. We are humbled by how much the podcast has grown this year, our followers on Spotify alone grew 85%. And 97% of you discovered us this year. Welcome to all our new listeners from this year! Our reach around the world has expanded now, you are listening from 75 countries! On Spotify we have a rating of 4.9 stars, and we will only keep it that way if you all give us those stars. HUGE thank you to our team for making all this happen… Corinne, Amanda, Kajal, Sanya, and Ashlyn. Shoutout to our 40+ sponsors who support the show, checkout the full list here. And most of all THANK YOU LISTENERS! You are why we put so much work into the show. We love including you on the show, so email us what you think the biggest genetics news story of 2022 has been, then you will be featured in our year wrap up episode with Dr. Eric Green. Email is info@DNAtoday.com Our guest today is Sage Sargent (She/Her), who is a patient advocate for congenital adrenal hyperplasia (CAH). Sage is a 27 year old non-binary person who was diagnosed with classic CAH before the age of 1. She has a bachelors in Gender studies with a minor in Ethnic studies from the University of Utah where she graduated in 2021. Through her education and her connection to the queer community Sage has been able to heal some of the disconnect she felt growing up, when she didn't have the language to describe her experience. Now as an adult Sage hopes that her lived experience as an intersex person can help others who might feel as lost as she once did. On This Episode We Discuss:How hormones are imbalanced in people with CAHThe two main types of CAH and their symptomsGetting diagnosed with CAHCAH inheritance and carrier screeningTreatments that people with CAH can utilize and their side effectsCAH and the LGBTQIA+ communityCAH and gender identityGene therapy for CAHAdvice and insight for parents of a child who has been newly diagnosed with CAH or couples who are carriers of the conditionIf you'd like to check out the papers that we referenced in the episode, you can read those here:Gender-role behaviour and gender identity in girls with classical congenital adrenal hyperplasia and Gender Identity in Patients with Congenital Adrenal HyperplasiaStay tuned for the next new episode of DNA Today on December 9th, 2022 where we'll be joined by patient advocate Mike Graglia and genetic counselor Elli Brimble to discuss SynGAP1! New episodes are released every Friday. In the meantime, you can binge over 210 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer is Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. SPONSORED: Are you seeking a position as a Genetic Assistant? People in these vital roles aid with clinical and research patient communication, data entry, genetic testing coordination, and administrative tasks. Therefore training is key! We recommend The Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine. This online program provides knowledge and skills to learners considering Genetic Assistant positions or those recently hired into these roles who need job training. This program consists of two 10-week instructor-led courses. All you need is a basic understanding of science, particularly biology. At the successful completion of the program, learners will receive a certificate of completion from the Johns Hopkins School of Medicine and the McKusick-Nathans Department of Genetic Medicine. Applications are open for the spring cohort starting January 23rd, 2023. Applications for partial tuition waivers to help offset the cost of the program are due December 23rd. Don't wait! Check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine now.
The birth of Jihan's first daughter, Bella, was traumatic. She and her husband were totally unprepared for the diagnosis of congenital adrenal hyperplasia (CAH) and struggled with the way the news was delivered to them. Their health care providers failed to provide adequate instructions about the care of a baby who is fragile due to adrenal insufficiency. The first two weeks of Bella's life were frightening, as her parents tried to get the care that she needed and learn how to care for her at home. Twelve years later, Jihan's youngest daughter, Alessia was also born with CAH. This time they were prepared. Adam Shaywitz, endocrinologist, and Chief Medical Officer at BridgeBio Gene Therapy provides an overview of CAH. He describes how CAH affects the adrenal glands, two tiny walnut sized organs which rest on top of the kidneys. The adrenal glands produce critical hormones which regulate blood pressure and play a critical role in how the body manages stress. With too little of these important hormones, patients can go into adrenal crisis, which can be life threatening.
Damon Vincent, owner of Unique Health & Fitness (currently being rebranded as TrainUnique) in Lafayette joins Discover Lafayette to share his passion for helping others. Damon has dedicated his professional career to helping athletes with special needs. A young man of 26, Damon grew up with Congenital Adrenal Hyperplasia, a condition that prevents adrenal glands from producing sufficient cortisol. While his parents allowed him to have a normal life by playing football, wrestling, and riding dirt bikes, he was always on medication and had to wear a medic alert. He was "hell-bent on pushing himself" and didn't want his condition to hold him back. The experience shaped Damon's mindset and he is following his personal and professional calling to empower others, especially individuals who have special needs. His work with people of all backgrounds led him to partner with the DREAMS Foundation, a non-profit dedicated to providing opportunities for individuals with special needs. In August 2020, Damon opened Unique Health and Fitness, Louisiana's first and only dedicated fitness and health center for Unique Individuals. DREAMS' founder, Donielle Watkins, helped Damon get Unique Fitness off the ground; today, All of DREAMS' meetings, art programs, cheer practices, etc. are held at the facility. "We couldn't have gotten started without the help of Donielle and DREAMS." "I was blessed to find my calling at an early age. I wanted to provide a place of belonging in a community that was really focused on the communal aspect of getting better together. It's a group of people coming together with the same end goal in mind, to be fitter, healthier, and more independent. I'm a fitness professional and this is how I know how to do that....at the gym. It's a mission of community and self-improvement. Always striving, never giving up." Damon says of this special population (which can include people with cerebral palsy, Spina Bifida, spinal cord injuries, traumatic brain injuries, amputations, autism, and Downs syndrome), "They are champions on their own. These individuals already have it mentally. They've been fighting their whole lives They've had to work so hard all their lives and have not been able to make excuses. So when they come into the gym, it's about equipping them with the tools and opportunities to let that shine out. That's why I love it so much! It's different than working with the general population. Pictured are members of Unique Health and Fitness, soon to be rebranded TrainUnique. Damon's new studio is located at 133 Digby Avenue, Lafayette LA. Damon has partnered with the Gladiators Academy of Lafayette and Ignite Fitness Club at this new facility. While people of all ages are welcome, the club focuses mainly on teens and adults and offers a full-on fitness program after therapy. Damon provides a professional and comprehensive fitness solution designed for all individuals who need a Unique approach to fitness for their Cognitive or Physical needs. He wants to see people moving and being fit their entire lives. Damon mentioned that while there are typically a lot of therapies available for children, once a person reaches their teens and moves into adult life, those opportunities can dwindle. The gym is a place for "unique people to move and be fit their entire lives." You won't see weight machines at this gym as the lack of neuromuscular engagement involved with machines is not helpful to individuals with special needs. Free weights offer optimal resistance training and give the athletes the ability to learn to control their movements. It also makes the athletes stronger and gives them the independence to be able to lift themselves, go to festivals, get out and enjoy life. Flexibility and cardiovascular fitness are also targeted. The athletes recently enjoyed competing in the club's "Unique Olympics" and there was serious competition going on in categories such as martial arts,
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Javier Szwarcberg, CEO of Spruce Biosciences, is developing a compound to address the needs of patients with classic congenital adrenal hyperplasia, CAH, a rare disease first diagnosed at birth. Only recently have companies started to explore innovative therapies to improve the standard of care discovered in the early 1960s. Currently, patients manage their conditions with glucocorticoids but often suffer from steroid-related complications. Javier explains, "What we're trying to do with our drug is to treat the disease. The compound is a small molecule that binds to a receptor in the pituitary and blocks the release of a hormone called ACTH or adrenal corticotropin hormone. By blocking that hormone, you reduce the amount, the stimulation on the adrenals, and the buildup of precursors that are going to lead to a hyperandrogenic state. So our drug treats the disease. Patients, of course, will still need to get steroids daily to supplement the missing cortisol. But the CAH piece of the disease will be well managed. That's the hope." "The whole pharmaceutical industry and academic community are starting to pay more attention to rare diseases. And back when I started my career in industry, it was all about addressing the totality of a population with, say, hypertension or diabetes or cancer, for that matter. Now there's a realization that companies ought to be more thoughtful, and research ought to be more thoughtful and address the needs of a subset of patients with rare diseases with more kinds of patient-targeted therapies." @Spruce_Bio #RareDisease #CAH #CongenitalAdrenalHyperplasia #Glucocorticoids SpruceBiosciences.com Listen to the podcast here
Javier Szwarcberg, CEO of Spruce Biosciences, is developing a compound to address the needs of patients with classic congenital adrenal hyperplasia, CAH, a rare disease first diagnosed at birth. Only recently have companies started to explore innovative therapies to improve the standard of care discovered in the early 1960s. Currently, patients manage their conditions with glucocorticoids but often suffer from steroid-related complications. Javier explains, "What we're trying to do with our drug is to treat the disease. The compound is a small molecule that binds to a receptor in the pituitary and blocks the release of a hormone called ACTH or adrenal corticotropin hormone. By blocking that hormone, you reduce the amount, the stimulation on the adrenals, and the buildup of precursors that are going to lead to a hyperandrogenic state. So our drug treats the disease. Patients, of course, will still need to get steroids daily to supplement the missing cortisol. But the CAH piece of the disease will be well managed. That's the hope." "The whole pharmaceutical industry and academic community are starting to pay more attention to rare diseases. And back when I started my career in industry, it was all about addressing the totality of a population with, say, hypertension or diabetes or cancer, for that matter. Now there's a realization that companies ought to be more thoughtful, and research ought to be more thoughtful and address the needs of a subset of patients with rare diseases with more kinds of patient-targeted therapies." @Spruce_Bio #RareDisease #CAH #CongenitalAdrenalHyperplasia #Glucocorticoids SpruceBiosciences.com Download the transcript here
In this podcast, the definition, pathophysiology, signs, investigations, and management of congenital adrenal hyperplasia (CAH) are discussed. Additionally, the difference between classic and non-classic congenital adrenal hyperplasia and signs of a salt-wasting adrenal crisis are highlighted. This podcast was created by Dr. Kimberly Young, a first-year Paediatric resident at the University of Toronto, with support from Dr. Diane Wherrett, a Paediatric Endocrinologist at the Hospital for Sick Children in Toronto.
Okay, so today is my last instalment on my series about endo and our hormones and today we're talking about testosterone. Now, you might think that testosterone doesn't matter to people with ovaries and a uterus, but it really, really does. Whilst testosterone is much higher in people with testes, it actually plays a significant role in ovulation. So, let's take a closer look. So, remember how we previously talked about the importance of oestrogen? Well, without enough testosterone, you won't have enough oestrogen. Why? Because most of the testosterone that we make is converted into oestrogen, by an enzyme called aromatase. Let's do a quick cycle recap. During days 3-5 of your cycle, a hormone called follicle stimulating hormone, recruits a couple of follicles, which are like water balloons filled with an egg, to begin maturing, with the intention that one will eventually go on to ovulate. The follicles which were selected by FSH begin making testosterone, which is in large part then converted into oestrogen (so when we say oestrogen is made in the ovaries, this is what we mean). The rising oestrogen let's the brain know that it's time to lower FSH because the follicle chosen for ovulation is happily growing away. This then triggers the rise in luteinising hormone, which in turn stimulates more testosterone and androstenedione production, which again is converted largely into oestrogen, though testosterone peaks during this time too. Testosterone then drops down again after ovulation and remains fairly low for the remainder of the cycle. Now, whilst most of your testosterone ends up as oestrogen, the rest that does remain helps to boost libido, and from a biological standpoint, that's so we increase our chances of conception around ovulation. Testosterone also has a positive effect on our mood, by increasing confidence, drive and motivation. In short, it gives the body and mind the determination to go after a mate. On top of that, testosterone helps to build muscle mass, increases the happy hormone dopamine, supports the health of reproductive organs and the bladder and aids with brain function. So what can go wrong with testosterone? One of the more common issues we can see in our community is high levels of testosterone, often caused by a condition called Polycystic Ovary Syndrome, which is a condition that is very prevalent in people with endo. PCOS is normally defined by the presence of high testosterone levels, cysts on the ovaries and a lack of ovulation or delayed ovulation, among other symptoms. It's important to note that PCOS varies from person to person and not everyone with PCOS will have cysts or high testosterone levels, for example, but more often that not, high testosterone levels will be present. There are a couple of different types of PCOS and causes of PCOS, and I've linked to articles for further reading in the show notes. A key cause of high testosterone and PCOS is high insulin levels from dysregulated blood sugar. I bang on about this a lot, but for a quick recap, blood sugar is the measurement of glucose, released from carbohydrates, in the blood. Glucose is our body's primary source of fuel, but too much of it can cause a lot of problems. Insulin is the hormone responsible for delivering glucose to our cells, and when we have high levels of glucose, the body pumps out more of it. The issue being that insulin has a direct effect on the ovaries, and high levels of it stimulate the ovaries to make too much testosterone. It also lowers sex hormone binding globulin, which is a hormone that binds up testosterone in the blood until we need it, and so without sufficient levels of SHBG, we have a lot of testosterone floating around. This excess testosterone actually prevents ovulation, and the follicle that was going to ovulate, becomes a cyst – which is how we end up with cysts on our ovaries. Insulin issues with PCOS may not always be caused by diet directly, but rather genetic issues, though balancing your blood sugar is important to help regulate insulin, even in the presence of genetic problems. There is also a condition called Congenital Adrenal Hyperplasia. Whilst testosterone is made in the ovaries, it's also made in your adrenal glands, and this condition causes the adrenals to make too much testosterone, creating delayed or lack of ovulation. High testosterone levels can cause multiple symptoms, including: · Irregular cycles · Hair loss · Dark hair growth on chest, abdomen, back, chin and face, nipples · Weight gain · Acne and oily skin · Insomnia and sleep disturbance · Blood sugar imbalances · Ovulatory pain · Cysts on the ovaries · Body odour · Mood swings So now let's look at our other common problem, low testosterone. Low testosterone is most commonly caused by birth control and I see this a lot in my clients who are coming off birth control. Most forms of birth control stunt ovulation, and the lead up to ovulation is what aids in testosterone production, so when we halt the natural cycle, the production of testosterone is lowered. Additionally, the pill specifically raises levels of that SHBG, which as we discussed earlier, binds to testosterone. These levels can stay elevated post-pill for years, so even though testosterone production is occurring, the testosterone can't be used because it's bound up. We can test for this by checking our ‘free testosterone' levels, which is the measure of unbound testosterone, and I'll give you more guidance on how to do that shortly, but even seven years post-pill, my SHBG is still high and my free testosterone is low. Now of course, birth control isn't the only thing which would stunt ovulation or ovarian function. As we discussed earlier in this series, stress is a key culprit and high cortisol can lower the output of all sex hormones, including testosterone. And that stress can be in the form of lack of nutrients, inflammation, illness and mental or emotional stress. Signs of low testosterone include: · Increased pelvic pain · Fatigue · Low moods and low self-esteem · Brain fog and slow cognitive function · Low libido · Painful sex · Vaginal dryness · Difficulty building muscle Now, like the other hormones, you can test your testosterone levels with a simple blood test, but the dried urine sample test, DUTCH test, will be most accurate and in-depth, whereas the blood test will give you a snapshot (but it's a good starter!). For the blood test, you should take your test in the morning, between 7am and 10am, as that's when testosterone is at its highest. You can take your test at any point in the cycle but if you're testing your other hormones on day 3 (apart from progesterone, remember that test comes around day 21) then you can do them all together. For the DUTCH test, you need to follow their timings and instructions accurately, and they may vary depending on what type of DUTCH test you do. My preferred DUTCH test is the Cycle Mapping one, because it literally tests what your hormones are doing on every day of the cycle. Now the DUTCH test will check all of your hormones, but the blood test won't, so what you need to ensure is that your test takes is free testosterone, which looks at the amount of testosterone which is not bound by SHBG, total testosterone, which is the total amount of free testosterone and bound testosterone and then if you can, SHBG too. I've linked to a couple of tests in the show notes that provide these. Ideally, if you can, you want to test all of your androgens, which are the group of hormones that testosterone belongs too, and these can also have effects on your testosterone levels or mimic the symptoms of high or low testosterone. If your test results come back with high testosterone levels, I would suggest doing further testing into PCOS – however, blood sugar imbalances can be responsible for elevated levels, so focus on addressing this root cause too. If your free testosterone levels are low and your SHBG is elevated, it may be from a history of birth control, so I would suggest you work with a practitioner to help address this. If your total testosterone levels are low, it's important to support healthy follicular and ovulatory phases as we need the ovaries to be functioning optimally for testosterone to be made. Because some of your testosterone is also made in your adrenal glands, which control your stress response, addressing stress and possible HPA axis dysfunction is important here too. We address all of these root causes in my Live and Thrive with Endo course and in my one and one work, but the course isn't out until autumn this year. I've linked to a couple of my podcasts and extra resources to help you learn more and start tackling these issues. Now because blood sugar imbalances stress the body, whether your testosterone levels are high, or low, or actually great, balancing your blood sugar is one of the best ways to keep testosterone levels healthy or get them back on track. I've linked to some of my resources and my masterclass on blood sugar in the show notes. Show Notes Testosterone references https://www.ncbi.nlm.nih.gov/books/NBK279054/ https://pubmed.ncbi.nlm.nih.gov/4685386/ https://pubmed.ncbi.nlm.nih.gov/28847480/ https://pubmed.ncbi.nlm.nih.gov/9609208/ https://www.yourhormones.info/hormones/testosterone/ https://drbrighten.com/when-is-the-best-time-to-test-hormone-levels/ https://nicolejardim.com/my-1-post-for-2013-the-pill-your-sex-drive-how-to-start-reclaiming-your-va-va-voom/ https://www.ncbi.nlm.nih.gov/pubmed/8005293 https://drbrighten.com/high-testosterone-women/ https://nicolejardim.com/balance-hormones-naturally/ PCOS https://www.floliving.com/a-womans-guide-to-pcos/ https://drbrighten.com/natural-solutions-treatment-of-pcos/ https://nicolejardim.com/the-pcos-protocol/ Blood Sugar Masterclass: https://www.thisendolife.com/nutrition-for-endo-advanced-masterclass HPA Axis Dysfunction https://www.thisendolife.com/this-endolife-podcast-episodes/hpa-axis-dysfunction-healing-tips-endometriosis https://endometriosisnews.com/2020/06/11/stress-management-hpa-axis-dysfunction/ https://endometriosisnews.com/2020/08/27/hpa-axis-dysregulation-recover-tips/ https://www.thisendolife.com/live-and-thrive-with-endo-the-course Testing https://dutchtest.com/info-cycle-mapping/ https://medichecks.com/products/female-hormone-check-blood-test https://medichecks.com/products/female-hormone-check-advanced-blood-test https://thriva.co/tests/TPKD3E https://instagram.com/futurewomanhq?utm_medium=copy_link - sign up to be able to order tests Let's get social! Come say hello on Instagram or sign up to my newsletter. My new Nutrition for Endo Masterclasses are out now and are on special offer. Get one masterclass for £29.99 (full price £40) or both for £50. Find out more here. My cookbook This EndoLife, It Starts with Breakfast is out now! Get 28 anti-inflammatory, hormone friendly recipes for living and thriving with endometriosis. Order your copy here. If you feel like you need more support with managing endometriosis, you can join Your EndoLife Coaching Programme. A 1-to-1 three month health and life coaching programme to help you thrive with endometriosis. To find out more about the programme and to discuss whether it could be right for you, email me at hello@thisendolife.com or visit my website. This episode is produced by Ora Podcasts. Ora provides audio editing, management and other services to make podcasting simple and sustainable for their clients. Health coaches, nutritionists, mediums, personal trainers, tarot readers, teachers, or just those striving for a better world, Ora can help you start and maintain your podcast. Get in touch today. This episode is sponsored by BeYou. Soothe period cramps the natural way with these 100% natural and discreet menthol and eucalyptus oil stick on patches and CBD range. Click here to find out more and to shop: https://beyouonline.co.uk This episode is sponsored by Semaine. Try their supplement for period pain and daily supplement for hormonal balance and PMS prevention with code ENDOLIFE to get 20% off your first order.
Looking for more information on this topic? Check out the Congenital Adrenal Hyperplasia brick. If you enjoyed this episode, we'd love for you to leave a review on Apple Podcasts. It helps with our visibility, and the more med students (or future med students) listen to the podcast, the more we can provide to the future physicians of the world. Follow USMLE-Rx at: Facebook: www.facebook.com/usmlerx Blog: www.firstaidteam.com Twitter: https://twitter.com/firstaidteam Instagram: https://www.instagram.com/firstaidteam/ YouTube: www.youtube.com/USMLERX Learn how you can access over 150 of our bricks for FREE: https://usmlerx.wpengine.com/free-bricks/ from our Musculoskeletal, Skin, and Connective Tissue collection, which is available for free. Learn more about Rx Bricks by signing up for a free USMLE-Rx account: www.usmle-rx.com You will get 5 days of full access to our Rx360+ program, including nearly 800 Rx Bricks. After the 5-day period, you will still be able to access over 150 free bricks, including the entire collections for General Microbiology and Cellular and Molecular Biology.
Looking for more information on this topic? Check out the Congenital Adrenal Hyperplasia brick. If you enjoyed this episode, we'd love for you to leave a review on Apple Podcasts. It helps with our visibility, and the more med students (or future med students) listen to the podcast, the more we can provide to the future physicians of the world. Follow USMLE-Rx at: Facebook: www.facebook.com/usmlerx Blog: www.firstaidteam.com Twitter: https://twitter.com/firstaidteam Instagram: https://www.instagram.com/firstaidteam/ YouTube: www.youtube.com/USMLERX Learn how you can access over 150 of our bricks for FREE: https://usmlerx.wpengine.com/free-bricks/ from our Musculoskeletal, Skin, and Connective Tissue collection, which is available for free. Learn more about Rx Bricks by signing up for a free USMLE-Rx account: www.usmle-rx.com You will get 5 days of full access to our Rx360+ program, including nearly 800 Rx Bricks. After the 5-day period, you will still be able to access over 150 free bricks, including the entire collections for General Microbiology and Cellular and Molecular Biology.
In this episode, we review the high-yield topic of Congenital Adrenal Hyperplasia (CAH) from the Endocrine section. Follow Medbullets on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets
This episode is also available as a blog post: https://thecitylife.org/2021/07/26/for-children-with-classic-congenital-adrenal-hyperplasia-researchers-are-working-to-advance-treatment-options/ --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/citylifeorg/message Support this podcast: https://anchor.fm/citylifeorg/support
In this episode, we review the high-yield topic of Adrenogenital Syndrome (Congenital Adrenal Hyperplasia) from the Endocrine section. --- Send in a voice message: https://anchor.fm/medbulletsstep1/message
Listen Now Dr. Paul Thornton and Dr. Blake Palmer lead a lively round-table discussion on reaching clinical excellence through exceptional interdisciplinary care for patients and families. Dr. Paul ThorntonDr. Blake PalmerCortney Wolfe-Christensen PhDEmily Haddad LCSW Related InformationCongenital Adrenal Hyperplasia (CAH)Treating Congenital Adrenal HyperplasiaCook Children's Endocrinology DepartmentCook Children's Pediatric Urology Department Transcript 00:00:02 Host: Hello and welcome to Cook Children's Doc Talk. Today we're talking about congenital adrenal hyperplasia. Cook Children's is designated by the Cares Foundation as a Center of Excellence for Congenital Adrenal Hyperplasia. Joining us are members of the team, Dr. Paul Thornton, Medical Director, Endocrine and Diabetes Program, Dr. Blake Palmer, Medical Director Pediatric Urology and Surgical Director Kidney Transplantation. Dr Cortney Wolfe Christiansen, clinical child psychologist, and Emily Haddad, a licensed clinical therapist and social worker. Welcome to all of you. 00:00:39 All: Thanks for being here. Thank you for having us, happy to be here. 00:00:43 Host: Congenital adrenal hyperplasia or CAH, is one of the most common inherited metabolic disorders. We know that there are two forms of CAH, classic and non classic. Non classic is a mild form of CAH and fairly asymptomatic, while classic CAH is very severe and often life threatening. From birth, the classic form of CAH affects approximately one in 15,000 babies born each year. While we can touch briefly on the non classic form, I'd really like to focus on the classic form of CAH and the unique challenges faced when caring for children with this disease. Dr Thorton, as the medical director of this program can you take us through an overview of CAH? 00:01:25 Dr. Thornton: Yes, congenital adrenal hyperplasia CAH as we like to abbreviate it, is a condition in which there is an enzyme deficiency in the adrenal glands and as a result we get a deficiency in some of the most critical hormones in the body for example cortisol with in excess of the sex steriods, particularly the androgens being produced. And why this is very important is that cortisol is essential for life and in times of critical illness our bodies make more cortisol in order to help us survive and children with CAH are unable to do this and hence they can have life threatening adrenal crises which can be manifested as hypotension and hypoglycemia and can be critically dangerous. So with classical congenital adrenal hyperplasia there are 2 forms. there are those who are missing the cortisol and that would be called simple virilizing, and then 75 percent of the kids are missing both cortisol and aldosterone which is called salt wasting CAH, and that is by far the most dangerous of the 2 conditions. 00:02:31 Host: Dr Tho
Welcome to EndoPod's Revision Series! Each episode will cover bitesize revision material for those preparing for exams or even just for those who are interested in learning the basics of Endocrinology. This episode covers CAH, a rare condition that babies are born with. Voice - Hepsi Xavier Transcript - Jade Kiersten Editor - Serena Shoker Aberdeen University Endocrinology Society are a student lead organisation. All information provided in this podcast are intended for educational purposes. This podcast is not intended to replace the advice of a qualified health professional. The students involved in the making of this episode are in the 1st, 3rd and 4th of their medical education. Resources: https://gpnotebook.com/simplepage.cfm?ID=899285027 https://www.mayoclinic.org/diseases-conditions/congenital-adrenal-hyperplasia/symptoms-causes/syc-20355205 https://rarediseases.org/rare-diseases/congenital-adrenal-hyperplasia/#:~:text=Congenital%20adrenal%20hyperplasia%20(CAH)%20is,the%20top%20of%20each%20kidney. https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat https://www.dovepress.com/ethical-perspectives-on-the-management-of-disorders-of-sex-development-peer-reviewed-fulltext-article-MB
Heads upThis episode is best listened to (or read) after our other one about the intersex community.Content warning – some of the discussion around surgeries is considered violent given their non-consensual nature What makes a surgery medically necessary?A “rule of thumb” definition is: will not intervening cause the loss of life or limb Some gonadectomies – or the removal (-ectomy) of the gonads (anatomical precursors to the ovaries or testes) – have been justified to avoid the tissue becoming cancerous.But, a 2016 consensus paper on DSD care said there is “poor evidence” to support that Definitions:Hypospadias: when opening of where urine comes out is not at the very tip of the penis.Congenital Adrenal Hyperplasia: where a missing enzyme creates more testosterone and the clitoris is often enlargedThere are others, but these are two of the main variations that folks who have experienced non-consensual surgeries have.The past, the present:1950s-1990s, John Money: a child's gender identity would follow the anatomy of its genitalia, so if you change the genitalia you resolve any ambiguityMost current surgeons who perform these reject the reasoning presented in the historical paradigm, and they know that genital appearance doesn't dictate gender identityNow: many variations in genitals are defined as pathologic due to cultural definitions and expectations that people will want to have heterosexual penetrative sex.Example: a penis that can't penetrate isn't a penisExample: a clitoris that is too big….is too bigOne current common justification for surgery is that it can alleviate the emotional distress from someone's variation An ethicist's takedown of surgeries performed on intersex minorsSurgery done for a variation that isn't life or limb threatening and done to improve psychosocial (meaning emotional, stigma-based, psychological) suffering is NOT ethical. Don't forget: there ARE surgeries performed on infants with DSD variations that are medically necessary – these ethical concerns don't apply to thoseParental stress is not a medical emergency, and parental stress does not define medical necessity (as per 2016 consensus paper, a landmark paper in intersex policy). Four ethical reasons that infant and child DSD surgeries are a no-no:o High potential for harm from invasive surgeries, especially on fertility and sexual pleasureo Surgeries of this nature are not routine procedures, like a vaccine; rather, they are closer to a procedure affecting fundamental rights like sterilization. So, there is an inconsistent absence of legal oversighto There is almost no outcome data that supports the justification of psychosocial alleviation for these surgerieso Ongoing justification for surgery: ease parental distress and promote bonding with children. Two issues: 1) not an agreed-upon conclusion, and 2) still isn't an ethically sound reason to subject an infant or child to a highly invasive surgeryo The big concern is: was this surgery justified by psychosocial reasons? Surgeries: making medical care more complicatedAfter surgery, many folks need follow-up medical areHaving your gonads removed during surgery means you will have to hormones that would have otherwise been made in your gonadsSome folks may need follow-up procedures on the body parts that were part of the original surgeryWhy does this suck?First off, we're talking about American health care, so needing life-long insurance (to see doctors for the consequences a surgery performed before you even knew what the term “insurance” meant) makes things hard.Folks age out of pediatric practices, or move, or folks retire – so continuity of care is also quite challengingDr. Gregorio pointed out that there are only a handful of academic centers that can manage folks with surgical complications at the standard of care that they warrant.
We review the causative enzyme defects, presentation, evaluation, and prognosis for neonates with congenital adrenal hyperplasia. We are joined by Ming Yang, MD, Assistant Professor of Pediatric Endocrinology at the University of Texas Southwestern Medical Center.
Why is it called congenital adrenal hyperplasia? Which enzyme is deficient? What blood test do we do to diagnose?
This episode covers congenital adrenal hyperplasia.Written notes can be found at https://zerotofinals.com/paediatrics/endocrinology/cah/ or in the endocrinology section in the Zero to Finals paediatrics.The audio in the episode was expertly edited by Harry Watchman.
Contributor: Nick Tsipis, MD Educational Pearls: Congenital adrenal hyperplasia (CAH) is a group of enzyme deficiencies in the adrenals leading to a deficiency of hormones normally synthesized by the adrenals (mineralocorticoids, glucocorticoids, androgens) 21-hydroxylase is most commonly the deficient enzyme. 21-hydroxylase is needed to produce aldosterone and cortisol, and those with chronic cortisol deficiencies need daily steroid replacement Aldosterone, made in the kidney as part of the renin-angiotensin-aldosterone system (RAAS), increases blood pressure via salt and water retention to maintain adequate organ perfusion Adrenal crisis results in a loss of cortisol leading to hypoglycemia and potential CNS depression with hypotension, hypoglycemia, and hyponatremia Patients in adrenal crisis need salt, volume, and glucose replacement References Martin-Grace, J., et al. Adrenal insufficiency: physiology, clinical presentation and diagnostic challenges. Clin Chim Acta. 2020 Feb 6. Dineen, R., Thompson, C.J., Sherlock, M. Adrenal crisis: prevention and management in adult patients. Ther Adv Endocrinol Metab. 2019 Jun 13;10:2042018819848218. El-Maouche, D., Arlt, W., Merke, D.P. Congenital Adrenal Hyperplasia. Lancet. 2017 Nov 11;390(10108):2194-2210. Summarized by Jackson Roos, MS3 | Edited by Erik Verzemnieks, MD
Today we talk about all things hormonal with board-certified endocrinologist, Dr. Karl Nadolsky. Time Stamps: 02:30 Contributions to AACE Obesity Guidelines 09:15 Role of hormones in obesity 14:40 Routine endocrine screening- yea or nay 18:00 Optimizing hormones- yea or nay 21:00 Optimizing testosterone 23:15 What does the average person need to know about hormone testing? 25:00 Harms of inappropriate testing 26:30 Handling hormonal testing concerns 28:00 Why are hormones so hot right now? 33:45 Adrenal fatigue 38:20 Thoughts on supplements/foods for hormonal optimization 42:00 Endocrine management for athletes 44:50 Testosterone in athletes, why you so popular though? 50:50 Congenital Adrenal Hyperplasia in female athletes? 53:00 Transgendered athletes- thoughts? Obesity Guidelines Link: Link: http://obesity.aace.com/files/obesity/guidelines/aace_guidelines_obesity_2016.pdf Please leave a comment below and a review on iTunes! For more of our stuff: Podcasts: goo.gl/X4H4z8 Website: www.barbellmedicine.com Instagram: @austin_barbellmedicine @jordan_barbellmedicine @leah_barbellmedicine @vaness_barbellmedicine @untamedstrength @mike_barbellmedicine @derek_barbellmedicine Email: info@barbellmedicine.com Supplements/Templates/Seminars/Apparel: http://www.barbellmedicine.com/shop/ Forum: https://forum.barbellmedicine.com/ Newsletter: http://eepurl.com/cpqB3n
Chris takes a journey through the human body to learn more about his adrenal glands, hormone imbalance, and the symptoms and treatment of congenital adrenal hyperplasia (CAH).
Pearls from a core content talk on adrenal emergencies, a journal update looking at D-dimer in aortic dissection and some acid/base cases. https://media.blubrry.com/coreem/content.blubrry.com/coreem/Podcast_Episode_15_0_Final.m4a Download Leave a Comment Tags: Acid Base, Adrenal Gland, Adrenal Insufficiency, Aortic Dissection, Congenital Adrenal Hyperplasia, D-dimer Show Notes Shownotes Asha SE, Miers JW. A systematic review and meta-analysis of D-dimer as a rule-out test for suspected acute aortic dissection. Ann Emerg Med 2015. PMID: 25805111 Dierks DB et al. Clinical policy: critical issues in the evaluation and management of adult patients with suspected acute nontraumatic thoracic aortic dissection. Ann Emerg Med 2015; 65: 32-42. PMID: 25529153 Acid-Base Cases Quick questions & answers: For acute respiratory acidosis or alkalosis, how much does the pH change for every 10mm change of PCO2? What is the Winter's formula? For stable chronic respiratory acidosis, for every 10 mm increase in PCO2, how much should the pH decrease by? For each of the following cases, please analyze the acid-base status (i.e. anion gap metabolic acidosis, respiratory alkalosis,
Pearls from a core content talk on adrenal emergencies, a journal update looking at D-dimer in aortic dissection and some acid/base cases. https://media.blubrry.com/coreem/content.blubrry.com/coreem/Podcast_Episode_15_0_Final.m4a Download Leave a Comment Tags: Acid Base, Adrenal Gland, Adrenal Insufficiency, Aortic Dissection, Congenital Adrenal Hyperplasia, D-dimer Show Notes Shownotes Asha SE, Miers JW. A systematic review and meta-analysis of D-dimer as a rule-out test for suspected acute aortic dissection. Ann Emerg Med 2015. PMID: 25805111 Dierks DB et al. Clinical policy: critical issues in the evaluation and management of adult patients with suspected acute nontraumatic thoracic aortic dissection. Ann Emerg Med 2015; 65: 32-42. PMID: 25529153 Acid-Base Cases Quick questions & answers: For acute respiratory acidosis or alkalosis, how much does the pH change for every 10mm change of PCO2? What is the Winter's formula? For stable chronic respiratory acidosis, for every 10 mm increase in PCO2, how much should the pH decrease by? For each of the following cases, please analyze the acid-base status (i.e. anion gap metabolic acidosis, respiratory alkalosis,
Pearls from a core content talk on adrenal emergencies, a journal update looking at D-dimer in aortic dissection and some acid/base cases. https://media.blubrry.com/coreem/content.blubrry.com/coreem/Podcast_Episode_15_0_Final.m4a Download Leave a Comment Tags: Acid Base, Adrenal Gland, Adrenal Insufficiency, Aortic Dissection, Congenital Adrenal Hyperplasia, D-dimer Show Notes Shownotes Asha SE, Miers JW. A systematic review and meta-analysis of D-dimer as a rule-out test for suspected acute aortic dissection. Ann Emerg Med 2015. PMID: 25805111 Dierks DB et al. Clinical policy: critical issues in the evaluation and management of adult patients with suspected acute nontraumatic thoracic aortic dissection. Ann Emerg Med 2015; 65: 32-42. PMID: 25529153 Acid-Base Cases Quick questions & answers: For acute respiratory acidosis or alkalosis, how much does the pH change for every 10mm change of PCO2? What is the Winter’s formula? For stable chronic respiratory acidosis, for every 10 mm increase in PCO2, how much should the pH decrease by? For each of the following cases, please analyze the acid-base status (i.e. anion gap metabolic acidosis, respiratory alkalosis,
Deputy Editor Sarah Allan discusses the contents of a special preview of The Lancet Diabetes & Endocrinology, as well as plans for the journal's launch in September.
Anna Nordenstrom discusses the success of a newborn screening programme in Sweden for congenital adrenal hyperplasia.
Background: Linear growth is the best clinical parameter for monitoring metabolic control in classical congenital adrenal hyperplasia (CAH). Objective: To analyze growth patterns in children with CAH diagnosed by newborn screening and treated with relatively low doses of hydrocortisone during the first year of life. Patients and Methods: 51 patients (27 females) were diagnosed with classical CAH by newborn screening. All patients were treated with relatively low doses of hydrocortisone (9-15 mg/m(2) body surface area). 47 patients were additionally treated with fludrocortisone. Results: At birth, height SDS (H-SDS) was 1.1 +/- 1 in girls and 0.9 +/- 1.5 in boys. After 3 months, H-SDS decreased to 0.4 +/- 0.9 in girls and to 0.1 +/- 1.3 in boys. Over the 3-year period, H-SDS further decreased to -0.4 +/- 1.8 in girls and to -0.8 +/- 1 in boys and approached the genetic height potential (target H-SDS of girls -0.5 +/- 0.3 and target H-SDS of boys -0.9 +/- 0.7). During the first 9 months of age, growth velocity was slightly decreased in girls (18.2 +/- 1.9 cm) and boys (17.3 +/- 1.6 cm) when compared to a healthy reference population (girls 19.0 +/- 3.9 cm and boys 18.7 +/- 4.7 cm). At the age of 3 years, bone age was appropriate for chronological age in both girls (2.7 +/- 0.5 years) and boys (2.9 +/- 0.5 years). Conclusion: Birth length is above average in children with classical CAH, which might be the result of untreated hyperandrogenism in utero. With relatively low doses of hydrocortisone treatment, growth velocity decreases slightly during the first 9 months and H-SDS then approaches the genetic height potential. Copyright (C) 2010 S. Karger AG, Basel
Context: Mild forms of simple virilizing congenital adrenal hyperplasia (CAH) may be missed in newborn screening. In the pre-newborn-screening era, missed diagnosis of simple virilizing CAH was not infrequent in boys. Elevated adrenal androgens lead to accelerated growth and bone maturation. Traditional treatment of CA H consists of the suppression of ACTH through glucocorticoid replacement, in an attempt to reduce excessive androgen production. Objective: To retrospectively analyze early growth pattern and bone maturation in untreated boys with simple virilizing CAH. Patients: In the pre-newborn screening era, 13 boys had a late diagnosis of simple virilizing classical CAH. Diagnosis of 21-hydroxylase deficiency was confirmed by mutation analysis of the CYP21A2 gene in all patients. Growth data were retrospectively collected from standarized preventive medical checkups at the regular pediatrician until the time of diagnosis of CAH. Results: Length was 0.1 +/- 0.8 SDS (mean +/- SD) at birth, 0.2 +/- 1 SDS at 3 months, 0.2 +/- 0.9 SDS at 6 months, 0.7 +/- 1 SDS at 1 year, +1.1 +/- 0.9 SDS at 2 years and +1.8 +/- 1.2 SDS at 4 years. At diagnosis, mean chronological age was 4.4 +/- 1.6 years and height SDS was 2 +/- 1.7. Bone age was accelerated (9.4 +/- 4 years) at diagnosis. Signs that had led to diagnosis were pubic hair (n = 11), accelerated growth rate (n = 6) and birth of an affected sister (n = 3). Despite late start of hydrocortisone treatment, mean final height was 1 +/- 0.9 SDS. Seven of 18 patients had a final height within 1 SD of target height. Conclusion: Height velocity is not markedly increased in untreated boys with simple virilizing CAH in the first 6 months of life, indicating that infants are relatively androgen insensitive during that period. After the first 6 months of life, growth velocity increases significantly and elevated androgens lead to advanced skeletal maturation. This observation has implications for lower hydrocortisone doses to be used in CAH children during the first 6 months of life. In addition, staying alert for clinical symptoms and signs of simple virilizing CAH is still warranted, since mild forms may be missed in newborn screening. Copyright (C) 20105. Karger AG, Basel
Transcript -- Lisa-Lee's experiences growing up as a boy
Lisa-Lee's experiences growing up as a boy
Mon, 1 Jan 1979 12:00:00 +0100 https://epub.ub.uni-muenchen.de/9253/1/9253.pdf Knorr, D.; Bidlingmaier, F.; Weil, J.; Scriba, Peter Christian; Fink, R.; Müller, O. A.