Chapters Transcript Video Identifying Endocrine Disorders in Newborns: What Pediatricians Need to Know All right, we'll go ahead and get started and make sure we have enough time for Doctor Chester to present to us today. Welcome everyone. My name is Maria Bremmer, physician liaison with video on children's hospitals. We're really pleased to have uh Doctor Hannah Chester speak with us on endocrine newborn screening as a reminder. This is ac me today. You will receive your c you can fill out your CME evaluation a couple of different ways. At the end of the lecture, we will have a QR code that you can scan and do from your phone that way or your browser will populate with the evaluation link at the conclusion of the webinar. Additionally, tomorrow, you'll get an email with a link to the evaluation summary and you can fill it out that way too. Please fill it out by Monday next Monday morning at 9 a.m. We have a deadline for you to fill it out then and then you will get your CME credit at the end of next week. A couple of housekeeping items, you are muted. If you have questions, go ahead and type it into the Q and A and we'll get to those uh questions at the end of the lecture, we do have some great webinars coming up. Let me pull up my slides back up one minute. Uh next week, we'll have an acute knee injury presentation instruction to cerebral palsy on December 3rd. And then we're wrapping up our 2024 webinar series with a lymphoma talk in December. We will be sending out a uh surveys to find out what webinars you want to hear about for next year. As we're building our 2025 we uh webinar series. I can't believe we've been running this for almost five years. Um So please let us know what you'd like to hear about. We're happy to have those presentations available to you. If you need anything from your liaisons, please don't hesitate to email, call us. We're here for any questions, issues you may have and all of our med, our webinars are our, we our med connection site there. If you need the link to that, go ahead and reach out without further ado, I'd like to introduce doctor Hannah Chesser. I'm going to stop sharing and hand it over to her. Welcome. Thank you for the introduction. I'll share my screen. Ok. Ok, good. Um Thanks for joining everyone. I am going to be talking about endocrine newborn screening and um I, my name is Hannah Chester. I'm one of the endocrinologists and children's hospital. So this is something that we frequently um are addressing while we are on service. Um because the uh California Neon Newborn Screening office speaks to our, the um the Oakland side whenever uh patient has a positive screen for either um congenital hypothyroidism or ch so, learning objectives for today are that by the end of his presentation, you should be aware of high risk populations and symptoms of congenital hypothyroidism. Be able to perform the initial evaluation of patients who have a positive newborn screen for congenital hypothyroidism. And understand how newborn screening um works for congenital adrenal hyperplasia and be able to perform the initial evaluation of patients who have a positive screen for CH. So, um you know, when I was initially preparing this presentation, I was actually surprised to learn some of this information, newborn screening was not widely available in the US until the 19 seventies. That means that some of you on the call uh may have not necessarily had a newborn screen when you were born. Um and still up to 70% of new NA I DS worldwide still do not undergo newborn screening. So, we are a privileged nation to actually be able to provide um early intervention or early screening for the babies that are born in the US. Um That being said, um it's important to keep in mind that the newborn screening um centers are only typically open during business days. Um Only 63% are available to carry out tests on Saturdays and only 33% on Sundays and even less 57% on holidays. So that means if you have a baby that's born, going into weekend time or say coming up in the winter holidays, for example, my twins were born on Christmas Eve, that means that they um their newborn screens were delayed probably by at least a couple days. So, uh pediatricians probably should be on higher alert for potentially a um a condition that um should have been detected on a newborn screen. Um Just a higher chance of missing it or having a delayed um positive screen during that time. So first, we'll talk about congenital hypothyroidism. Um It's the most common preventable cause of intellectual disability worldwide. The incidence is somewhere between one in 2000 to 1 in 4000 newborn infants. The reason for um the higher incidence of one in 2000 is that we are picking up more and more newborns. Um Thanks to more um more prevalent newborn screening, there is a slightly increased um incident in females and that's because there's a higher rate of thyroid ectopia, there's a 1.5 to 2 times increased incidence of ectopia. Um That being said, the rate of hormone dysgenesis is equal between both sexes. There's also an increased incidence in um babies that have trisomy, 21 somewhere between a 1 to 12% chance of having a congenital hypothyroidism and also increased risk uh in multiple gestations. So there is a one in 876 chance and for twin births and then one in 575 chance for a higher order multiples. And one thing to note is that twins, twins are often in discordance with um ch so just because one twin baby has a thyroid problem does not mean the other. Well, so symptoms of untreated congenital hypothyroidism. This is the kind of uh presentation you hopefully would only see on your board exam would be large, posterior fontanelle, large tongue, umbilical hernia, prolong jaundice, constipation, lethargy, hypothermia. This um is a classic picture um of a baby that has congenital hypothyroidism. And we know that thyroid hormone is very important for brain development and for growth. And so uh thyroid hormone deficiency can lead to intellectual disability, psychomotor dysfunction and impaired growth. And just to understand the physiology um of fetal thyroid and fight it is worthwhile to screen for it. Um So the fetal thyroid gland starts to form around three weeks of gestation. And then by the end of the third trimester, the fetal thyroid gland is actually producing thyroid hormone, but it takes time to mature, it's not fully mature until birth. Um because the hypothalamic pituitary axis is still um ramping up. And so until birth, the fetus does depend on maternal t for. And so that means if mom has normal thyroid function or adequately treated, um thyroid function, the fetus is also saying normal thyroid levels until birth. And so that's the reason that if we catch hypothyroidism early and treat it, there shouldn't be any long term sequela for neuro cognition um because they are getting neuroprotective effects from mom's thyroid then up until birth. So, um thinking about etiology for congenital hypothyroidism, most cases are permanent, some are transient, um permanent causes would be uh primary uh defect in thyroid gland development. So, potentially the gland is ectopic or not present at all. Um You can have a problem with thyroid hormone synthesis and then rarely, you can have a problem with pituitary or the hypothalamus. So that would be central hypothyroidism, which is a TSH deficiency and then there are some transient causes. Um If mom is taking a anti thyroid medication that could temporarily um cause hypothyroidism in baby, that there can also be TSH receptor blocking antibodies which um can occur in 2% of cases of ch and then either maternal or fetal iodine deficiency or excess could cause a thyroid problem in baby. So just looking zooming in on a couple of these um reasons. So this is a common question that endocrinologists receive, I think from community pediatricians is um what type of concerns or risks do we have for baby babies that are born to a mom that has a thyroid problem. Um So I would say the most common thyroid problem in mothers is hashimoto thyroiditis, autoimmune, um hypothyroidism and the antibodies that cause Hashimotos are the TPO antibody and thyroglobulin antibody. And those are both IgG mediated processes. So, even though those maternal antibodies are transferred to the fetus into baby, um by the time the slow inflammation occurs from the antibodies, it will be out of the baby's bloodstream. So we say that the antibodies that cause hashimoto thyroiditis should not be a, a problem in babies. The ones that do cause a problem would be the antibodies that have a direct stimulating or blocking effect on the thyroid gland. So that would be one of the trap antibodies there. Those are the TSH receptor antibodies. The classic TSH receptor antibody is T si that's the thyroid stimulating immunoglobulin. That's the one that causes graves disease. Um So hyperthyroidism, but then in a small amount of cases. So 2% of the time you can have a blocking antibodies. So it would directly block the function of the thyroid gland. Um and it would present in baby as hypothyroidism and then iodine. So, um iodine is important for thyroid health. We need it for thyroid function. Um but then excess iodine can actually cause dysfunction. That's why we use iodine drops for someone that has hyperthyroidism as they're going into surgery. Um So iodine excess around the perinatal time, um could be from amiodarone antiseptics or contrast agents. And then iodine deficiency could be um due to uh deficiency while mother is pregnant. I was surprised to learn that more than half of pregnant women in the United States may have a mild iodine deficiency and that's why um prenatal vitamins should contain iodine. And the recommendation is that uh the vitamins contain iodine and are taken during pregnancy as well as lactation. So, let's zoom in on the newborn screening itself. So, in California, um newborn screens are looking for high TSH levels and that's how it's done in the majority of states. And going back to the basics. A high TSH means that a patient would have hypothyroidism, you would have high TSH in a low fruity form. Um that means a low TSH, which would be from, that would be a central hypothyroidism or hyperthyroidism is not captured on the newborn screen. And so, um a baby is born and then they're actually exposed to the cold air and it's the cold air exposure that causes a surge in TSH. So it's normal physiology for all babies to have a very steep rise in the TSH in the 1st 24 hours of life. And you can see that it starts to decline pretty rapidly. Um But we do have to have age specific reference ranges um all the way after 24 hours of life. Um and they are also age specific reference ranges for free T four. But because of that TSH surge, we should not be sending newborn screens or, or even checking a TSH um earlier than 24. Ideally, not before 48 hours of life because if you check earlier, you're gonna get a high TSH and endocrinologist would just be saying repeat again. Um, because we don't know what to make of it. It's just normal to have that type TSH early on. Um, so California, like I mentioned, it's a primary TSH screening program. It only flags high TSH values. It's not looking at free t four levels. That does mean we, in small cases, we will miss essential hypothyroidism, um or babies that have a delayed rise in their TSH. And so that brings us to special cases that um different scenarios where you might have TSH that is changed or different. Um And it might be a reason for a false positive or false negative newborn screen. So, sick and preterm infants can have a delayed ts hr iodine deficiency is also more common in sick and preterm infants. Um Glucocorticoid exposure and dopamine can decrease TSH secretion. So that could potentially be a reason for a false negative screen. And then um babies and adults, all of us can have non thyroidal illness syndrome. That's essentially a metabolic compensation. Um When we have our thyroid levels fluctuate to compensate for illness because it is um it's our body's response to trying to recover from an illness. So, depending on where you are in the stage of non thyroid illness, you can have low T four with normal to low TSH. But then as the thyroid gland starts to recover TSH starts to rise and it can transiently rise up to 6 to 15 during recovery time. So that could potentially be a, a reason that we may have a um a posit a false positive newborn screen. Um just briefly, this, this is probably not gonna be caught in the California New screen, but there is something called hypothyroxinemia, prematurity, um, infants that are born premature, have premature thyroid axis as we have already reviewed. So we consider preterm to be less than 37 weeks. And also if you have low birth weight, less than 2500 g, you can have lower serum T four levels just because the thyroid gland is not fully mature yet. Um And so we do commonly see that in preterm infants, you might have low T four but normal TSH. And so if you move to a state that does screening slightly differently than ours, so if you're moving to a state that has a um T four and TSH screening, this could be a cause for um a transient cause of a, of a positive newborn screening. And this is something we just monitor with time and we um monitor thyroid levels and ensure that they're normalizing as a baby gets closer to corrected age of term. Um And that there are reference ranges that we use for preterm infants. We just have to, most laboratories aren't gonna be um accounting for prematurity in the reference ranges that are provided So in 2023 there were new guidelines that came out for clinicians regarding congenital hypothyroidism. One is that we need to try to delay a newborn screening at least past 24 hours of life. The recommendation is to send the first newborn screen somewhere between 48 and 72 hours. That's to try to reduce the risk of false positive results. Um and then high risk groups that uh have a higher rate of hypothyroidism should receive multiple other screens. So, um these infants need a second screen sent between two and four weeks alive if they were born prematurely, which is less than 24 weeks at a very low birth rate, less than 1500 g or ill enough to be admitted. And Niki, so basically, all Nikki babies need a second screen if you're monozygotic twin, that means a identical twin, trust me, 21. Um And then actually, preterm infants are supposed to get a third screening another uh four weeks later. So, preterm infants are supposed to get a total of three thyroid screens done and we have been working with our NICU to make sure that this is happening. Um And so the question is why do we need a repeat screening in monozygotic twins? This is the identical twins and the reason is is that they could share placental circulation. And so the um normal functioning thyroid bin of one twin could um donate thyroid hormone to the other twin. And so, um we early on the twin that has actually has hypothyroidism may appear to have normal thyroid function. Um And so that's what we have to repeat. So let's go through a case. I think this is like this is a very typical scenario that uh we are working with community pediatricians with. Um So you are notified that a five day old female born at 36 weeks has a positive newborn screening for congenital hypothyroidism. The TSH is 40 abnormal cut off is over 29. So mildly elevated TSH. Um You've already seen the patient in your office. There was no goiter, no lingual thyroid glands, baby's feeding. Ok? And you astutely order confirmatory crm tests. So you order TSH and three T four and the TSH comes back is still elevated at 17. Upper limit is eight and three T four is normal. It's 1.2 normal range is 0.87 to 1.5. So baby with a positive screen TSH was high and three T four is no. Um The new guidelines tell us what to do. Um And this is what we would be also walking you through if you consult us. So it's straightforward if the baby has a high TSH and there's a low three T four that confirms primary hypothyroidism, we're gonna start treatment with levothyroxine. The less clear cut cases are in this scenario, which would be subclinical hypothyroidism. So you have a high TSH and a normal three T four. That's when endocrinologist should be involved. Um There are controversial, controversial study results on neurodevelopmental outcomes of whether or not to treat um subclinical hypothyroidism. Most studies are pointing to no difference in developmental outcomes and there really are no studies that show any beneficial effects of starting levothyroxine um for a mild congenital hypothyroidism. Therefore, um we, we do have a little bit of leeway um within the first couple of weeks to decide whether or not we need to start treatment. So, um if TSH is over 20 we universally are gonna start levothyroxine. Um If TSH is less than 20 it could be reasonable to monitor the thyroid function with time, especially if it's one of those groups. For example, the baby was slightly preterm or um was ill at birth. That could be a re or maybe the newborn screen was sent a little bit early. Um Those would all be occasions that we might just say, hey, let's repeat TSH and PT four again in one or two weeks. And then if TSH elevation continues and it's over 10 by four weeks of life, we're gonna start treatment. Um just because we need to be cautious to make sure we're um preserving the brain function and also linear growth. Um And if we do think it could have been a transient cause we do keep Children on levothyroxine replacement up until the age of about three years old um before we trial off just because of the importance of brain development and growth. So we're always here happy to help. Um and we actually should be involved in these newborn screens because um we are working with the state of California and reporting back to them. Ok. So we'll shift gears now to the other endocrine condition which is on the newborn screening, um which is congenital adrenal hyperplasia. And this was one of the last um last part, last conditions that has been included on all newborn screen programs across the country. It first started in Alaska in 1978. That's because there's a much higher rate of um Ch in Alaska and it was not widely available in the United States um until 2009. So that certainly means that many people on this call may have not received newborn screening for CH. So um ch is a problem with one of the adrenal glands. There is a deficiency of 21 hydroxylase which is um an essential step of the steroid conversion pathway to get to aldosterone and cortisol. Um So patients that do not have enough 21 hydroxylase will have a build up of 17 HYDROXYprogesterone. So that is what our newborn screen is looking for. But clinically, that means that patients could have low Aldo. So they would be not able to maintain their salt balance, they could have low cortisol levels. So, adrenal insufficiency and they likely will have high androgen levels, so high testosterone levels. So 21 hydroxylase deficiency um will present in three forms. One is classic salt wasting. One is classic simple viral and the third is nonclassic. The incidence of 21 hydroxylase sufficiency is somewhere between one and 14,000 to 18,000 infants. So much, much more rare compared to congenital hypothyroidism. Um And again, the reason for the increased incidence is that we are detecting it more and more just because newborn screening is becoming more widespread and better. The majority are gonna be salt wasting. 75% 25% will just be simple paraly. And then I'm not gonna talk about nonclassic ch. Um but nonclassic ch is a lot more common. It's up to one in 200 births and typical presentation of that is more looking like PC OS or premature Adrar in the adolescent years. Um OK. So etiology is going to be a um defect in the sip 21 A two gene. This is autism recessive inheritance and it's a very complex chromosomal region. It's on chromosome six. And so there are many different um uh gene mutations which can occur in this region. There are over 200 pathogenic variants of the 21 hydroxylase um gene and 10 of these variants account for about 90% of ch cases that being said the gene um testing is not considered to be a first line diagnostic test. And that's because it's really difficult to distinguish someone who's a carrier for CH versus someone who actually has CH based off the um gene mutation that is present. So your typical CH presentation could be atypical genitalia and then uh adrenal crisis. So the goal of newborn screen is to prevent um the to catch it before adrenal crisis occurs. So a female baby would have over viy, potentially could have overal genitalia. So you may see atypical genitalia. That being said a male baby, it's normal in utero to be exposed to high levels of androgens. And so they, the male baby is exposed to high levels of androgens, but that just leads to normal male genitalia. So boys that have ch are not going are they, they're gonna look totally normal. The genitals are gonna look fully like a male genital. There's not gonna be any like red flag. Um which is why our newborn screen is so important before newborn screen was around. Um boys would present either an adrenal crisis or later as toddlers with signs of like premature agnar early puberty if they had this simple viral form. So, adrenal crisis is most likely to occur between five days and two weeks. I usually say the highest risk time is right around the um 7 to 10 day mark. And you may see symptoms of cortisol and aldosterone deficiency. So, hypoglycemia, progressive hyponatremia, hyperkalemia, dehydration, alkalosis, and ultimately, you could have shock or death if left untreated. You may see the over genitalia if baby is a girl and um the diagnosis is made by confirming very elevated serum 17 OHP. Typically for the classic salt wasting form, the 17 OHP is gonna be o over 3500. You might have high plasma Renan activity, but renin is difficult to test in babies just because um it's still impacted by the maternal Renan status. And then you may have the electrolyte abnormalities as listed above and potentially an abnormal CIN tropin which is ac th stimulation test. Um ch is a spectrum. So each individual can have different um different amounts of functionality of the 21 hydroxylase enzyme. And that's the reason that you get a varied presentation. So if someone has more residual function of 21 hydroxylase enzyme, that means that they could just be the simple izing. That means they've got more activity and that they're able to make adequate amounts of all doone. So really it's just potentially a cortisol problem, not a salt problem too. Um So our newborn screen, remember the goal of any newborn screen is to make sure that someone does not have irreversible um damaged from a easily from a treatable condition. And it's to make sure that no one dies. And so our, our uh cut off of for 17 OHP is high because our goal is to make sure, well, it's a low cut off. But our goal is to make sure that we are catching anyone who could possibly have ch because it's better to have a false positive and have to do additional testing rather than to miss someone. Um and have that patient die. So, goal is 100% screening sensitivity. Um And we just have to have a low threshold to attempt to detect everyone. This means that there are going to be many false positives and it's a low positive predictive value. So, um I will walk through ways that our newborn screening program is trying to reduce the number of false positives while still reliably detecting everyone that has the disease. Um So 17 OHP levels in healthy infants are going to similar to THTSH. It's gonna have a big surge of hormones right at birth. So you're gonna have high 17 OHP levels in the 1st 48 hours and then those levels should start to steadily decline um in healthy infants. Whereas someone who has CHB 17 OHP 17 OHP levels are just kind of steadily rise. Um So the the graph here is depicting just levels and and healthy child, healthy infants um and stratifying based off birth weight and it's time for birth. The reasons you might have a false positive result would be if someone is born preterm again, same situation with congenital hyperthyroidism. If there was a low birth weight, if the infant was unwell or stressed, it's normal for the adrenal glands to be hyperactive and you could have high se OHP levels. Um if the sample was collected too early before 48 hours of life, and then there are other rare disorders of steroid genesis which could cause some tohp elevation. Um These are all incredibly rare, but this is something that we would be potentially testing for. Um So the fix for trying to reduce these false positive results would be using reference ranges based upon birth weight or gestational age. Um Reference ranges for the 17 OHP and then second tier screening, which I will talk about in more detail. So the reason for the second tier screening is to um look at some other adrenal enzymes. So we can stratify um which infants were just sick were preterm versus which infants um look like they have adrenal steroids pointing towards ch and then you could also have false negative results. The highest risk group for this is are those preterm infants that were born to mothers that receive steroids um to try to mature the baby's lungs. So um if there have been multiple courses of betamethasone given to mom, the recommendation is to repeat the newborn screen or at least repeat um 17 OHP somewhere at like one or two weeks of life. Um when the steroids should have been out of the infant system and then um also to try to reduce this rate of false negative results. There are some states such as the state of Texas which um actually universally it's in a repeat Newbern screen between 8 to 14 days of life. Um California is not one of those states that it's only just sent the first time. And um so if you are seeing a patient who had their um newborn screen flagging concern for ch you need to send a serum 17 HYDROXYprogesterone and a cortisol level and then monitor electrolytes every 24 to 48 hours until those results are back. And if the the patient is still in the hospital, sometimes we'll recommend getting a bedside ultrasound to see if we can detect the uterus. Um in case that there is an infant that has um fully virilize genitalia that um was a female infant that has become virilize. So that that baby would have a uterus. Um The distinction between salt wasting and simple villy forms is not important. We treat it the same either way. So treatment is gonna be doing cortisol replacement, which we do with hydrocortisone salt replacement, which is four F and then we actually give table salt as well. So sodium chloride um and treatment is the same just to be safe even though there is a continuum of disease severity. So, the most recent guidelines for ch are um from 2018 and recommendations from those guidelines say that we should be screening or stratifying 17 OHP levels based off someone's gestational age rather than birth weight. Our California newborn screen is still stratifying based off birth weight but at least we're stratifying um that does help produce false positives. And then um we need to be repeating the screen for preterm and low birth weight infants. And in general, the more we check the 17 OHP, the more accuracy we're gonna have in detecting CH and now California is doing second tier screening with LC MS, um which I will talk about here. Um The second tier screening started pretty recently, Wisconsin is the state that is like the gold standard. It's where a lot of the research is done for newborn screening. Um They started doing second tier adrenal enzyme or adrenal precursor evaluation and it reduced the rate of false positive screens by 93% which is pretty amazing. By 2020 13 states were doing the second tier screening. California was not yet one of them, but as of last year, um it actually may have been two years ago at this point. But um in the past few years, California newborn screen is now doing the second tier screening for ch and the the general idea of it is that a preterm infant has high levels of different adrenal precursors compared to sick preterm infants. So that's just saying that there are differences in adrenal enzymes and adrenal precursors. Um depending on different scenarios. And you can see like blue circles here, preterm infants and then the yellow circles would be the sick preterm infants. Um However, the aldosterone and cortisol levels are should be the same in anyone who is sick or not sick or preterm or term. And so the second tier screening um remember our typical newborn screen is just looking at 17 OHP levels. But then the second tier screening is looking at the uh adrenal precursors which are circled here. So Andros Dion 21 D OXY cortisol 11 D OXY Cortisol and actually cortisol levels. And the screen actually is providing us with reference ranges for each of these. Um So this is what we see when we get a positive screen, we get uh 17 OHP reference ranges based off birth weight. And then we also get um reference ranges based off for, for all of the different a adrenal precursors which were listed out. And from there, we're able to get a little bit more information on whether or not like what our degree of suspicion should be for CH or not CH. And then this question has come up. Um Sometimes too, the question is um whether if a fetus is diagnosed with CH, if, if we could provide treatment in utero um with the thinking that if someone were to give steroids to a female fetus that could prevent virilization of the genitalia. And the, the answer is that this is still considered experimental. Um The administration of dexamethasone to girls with prenatally diagnosed CH really has conflicting results. Um There have been some studies that say that those girls that have received DEX potentially have uh a difference in childhood co cognition levels. But then some studies show that there has been catch up neurocognitive function later on. Um we don't know, we don't have enough evidence that giving DEX actually would reduce virilization. But we do know that high do steroids can impair beta cell function. So that means that a fetus that was exposed to a lot of dexamethasone could be at higher risk for developing diabetes. So currently, there's just like not enough information known and we don't um we don't recommend giving Dex to try to prevent that realization. Um So that was my, I think I've ended up leaving a lot of um time for questions. So that was my whirlwinds talk regarding our endocrine newborn screening. So I'm happy, happy to take any questions about that. Great. Thank you. Go ahead and um and share and I'm gonna pull up the QR code for everyone and then we have some questions. I'm gonna read them to you. Um And if people have additional questions, please type them in, OK. Here we go. Let's see here. The first um is saying I've not received newborn screen reports. We were told that there's no calls from them, assume everything is normal. Um That's a good question. I would actually be curious if, if other community pediatricians know if that's the case. I only see it from my end. Um where I sent all the positive newborn screens uh, I thought that, yeah, I guess like no news is good news because it seems from our end it seems like the pediatrician has received a positive new brain screen. Usually it's us and the pediatrician that receives it if and for the person who wrote that, if you're not getting them, just reach out to your liaison and we can connect with our endocrinologist and make sure you're getting those reports. But it would, it would become the California Newborn Screening program. It's not necessarily coming from us like we, we receive the fax with it too. So it should be sent to your office if it's positive, the person saying they've been calling them and emailing them repeatedly but they told us no news is good news. They're repeating it. OK. That's good to know. I mean, that's how it is on our end. But OK, that's questions asking for C A DS rescreening. Does it matter for the time of day? For blood drawing for cortisol level? It does not matter at this age, not in the infant time. Um They don't have circadian rhythms yet. So it's OK to check a random cortisol and a 17 OHP level in older kids, you need to check um both 17 hp and what is all first thing in the morning? Because that's when it should be highest. But for babies, it does not matter. All right. That's a question asking on the newborn screening question. Bio 10 days deficiency. Can it be missed on newborn screen? How do we confirm? I don't know that is outside the endocrine domain. All right. That's not one that we, yeah, that we see. I'm gonna give it just another moment. That's all the questions that have come through so far. I'm gonna give it just another moment. Um And see if any additional questions come through. Please scan the QR code. You can fill your email that way your like I said, your browser will populate with the evaluation if you choose to do it from there and then you'll also get an email. Uh See one more question just came in. So are you suggesting that all babies under 36 weeks be rechecked for full newborn screen at two and four weeks? I, you know, I also was wondering that um I'm specifically looking at the endocrine conditions on the newborn screen. Um It seems like yes, any preterm infant should get the full newborn screen rechecked. Um That being said, I think what is often happening is just like the thyroid levels are checked or the 17 OHP level is checked while the baby is in the NICU. Um But I I might take away from the new guidelines is that it should be the full new brain screen. How often should we repeat testing for subclinical hypothyroidism? So usually we're gonna be repeating the TSH and free T four levels us every week to every two weeks. Um, but if the TSH remains elevated at one month to life, if it's over 10, that's considered to be over the 90th percentile. So that's when we would start treating as hypothyroidism. Perfect. Thank you. All right. All preemies under 37 weeks should have a repeat. Yes. For, for TSH. And then another person saying just to clarify in outpatient p we are often seeing babies greater than 37 weeks. I know. Yeah. Right. So this is, uh a new guidance and virtually none are getting rechecked newborn screens. Yeah, I think, I mean, I think it's a, according to our guidelines, it is our new, um, recommendation. So I, I would, I think that we should be doing BP newborn screens and anyone who is born less than 37 weeks, it can only improve accuracy of, of, of catching a condition that's treatable. Um, that person's asking who's responsible to do it. I've never done on those premature babies. What are the logistics of doing it? Um You know, that's a good question, Maria, maybe you could follow up on that. Um, I don't know, I think we'd have to be talking to the California Newborn screening centers when I, um, when I have trained in other parts of the country, our, our offices would have the rep the newborn screen sitting there. Um, but it was just a heel stick and the ma or nurse would do the heels stick and do the droplets of blood and send it off. So I think this is something that would have to come from the California Newborn Screen Office and the guidelines, the guidelines are in the powerpoint. Uh the citations are well, yeah, we'll share those. Um then did you touch on, would you recheck it 40 weeks or when should you do the recheck be done? Repeat. Uh Two. Yes. So around term. So 2 to 4 weeks after birth. Perfect. And we will share the slides with everybody. It has all of the information, the citations and everything. Um You guys will get a copy of that this week. Uh Do we answer the what is the oldest age to repeat the newborn screen? Um I think that I, I don't want to tell you the wrong thing. I think that probably not past a month of crypto gestational age, right? Because it's the preterm things that are supposed to have multiple checks and it the check is supposed to occur at four weeks or earlier. Ok. Thank you. All right. If nothing else comes in again, scan the QR code or fill out your browser or wait for the email tomorrow, you'll get your um credit end of next week. We thank everybody for attending today, Doctor Chester. Thank you for taking your time to present to us today. We really appreciate it and we will see you all next week for our webinar. Have a great day. Everyone Created by
