EXPERT INSIGHTS

Length: 03:22

INTRO SUPER: Expert Insights on Congenital Adrenal Hyperplasia

SUPER: Balancing Excess Androgens and Glucocorticoids as a Pediatric Endocrinologist

SUPER: Dr. Ahmed Khattab, Pediatric Endocrinologist, Rutgers Robert Wood Johnson Medical School

[Dr. Khattab]

I'm Doctor Ahmed Khattab. I'm a pediatric endocrinologist in the Division of Pediatric Endocrinology at Rutgers Robert Wood Johnson Medical School.

I'm an associate professor of pediatrics in the Division of Pediatric Endocrinology, and I'm the director of Comprehensive Care Center of the Center of Excellence for Congenital Adrenal Hyperplasia (CAH), which is the only center in New Jersey.

I've been in medical practice for over 20 years, with about 15 years of them focusing in the area of adrenal endocrinology.

We do educate the patients and the caregivers about the certain side effects, or the symptoms and signs to look for, whether it's related to excess glucocorticoid administration or due to excess androgens. We try to tell them you would look for a rapid growth rate, for example, with excess androgens, or if you're undertreated, you would look for a slow growth rate.

We demonstrate this by showing patients the growth chart. We talk to our patients about the energy level. If the energy level is very low this may be related to very little glucocorticoid in the system.

Recognizing the signs and symptoms of glucocorticoid excess or androgen excess are very important in the management of CAH.

SUPER: Recognizing Signs of Androgen and Glucocorticoid Excess

[Dr. Khattab]

We try to talk to the patients about other signs that are very specific to excess androgens such as facial hair in women or females, irregular menstrual cycles, increased acne, body hair, hair loss, skin darkening or hyperpigmentation. Signs of excess glucocorticoids or overtreatment may indicate a lot of weight gain, headaches, high blood pressure, and slowed growth.

SUPER: Addressing Long-Term Risks of Supraphysiologic High-Dose Glucocorticoid Use

[Dr. Khattab]

We explain that we're trying to achieve a balance between the glucocorticoid administration and the actual control of CAH.

We make sure our patients are informed of the potential side effects of glucocorticoids in the acute stage and on the chronic stage or on the long term.

Patients and caregivers do acknowledge the importance of treatment and the importance of glucocorticoid administration, namely, that this is a potentially fatal condition. So, we must use glucocorticoids to treat the patients.

We talk to all our patients about healthy eating habits, the importance of avoiding weight gain, which will further contribute to obesity, insulin resistance, hypertension, and other comorbid conditions.

We talk to our male patients about the importance of testicular ultrasounds to evaluate for testicular rest tumors.

There's always glucocorticoid associated comorbidities in CAH, so being able to reduce the amount of glucocorticoids administered to these patients and hopefully trying to administer more physiologic glucocorticoids to these patients will be associated with a better disease outcome.

SUPER: Learn more at WhatTheCAH.com/HCP

Length: 06:53

INTRO SUPER: Expert Insights on Congenital Adrenal Hyperplasia

SUPER: Patient Care in CAH as an Adult Endocrinologist

SUPER: Dr. Sara Lubitz, Adult Endocrinologist, Rutgers Robert Wood Johnson Medical School

[Dr. Lubitz]

I am Sara Lubitz. I'm an adult endocrinologist at Rutgers Robert Wood Johnson Medical School.

5,10% of my patient population has classic congenital adrenal hyperplasia (CAH). It's a really rare condition, but if you go looking for it, it's actually pretty common.

There's not that many adult endocrinologists who specialize in congenital adrenal hyperplasia. I think it's something that's focused on more in the pediatric endocrinology fellowship, and there's a lot of experts in that area, but people grow up. Everyone turns over 18, and you need adult endocrinology experts to take care of these patients.

SUPER: Challenging Misconceptions in CAH Treatment

[Dr. Lubitz]

The biggest misconception is that when you find a good treatment regimen, that that's going to be the treatment regimen for the rest of your life, because unfortunately as times change, as somebody's needs change, as they're interested in fertility or they're starting to develop metabolic syndrome, the goals of therapy keep changing.

One of the difficulties is that the patient might feel really well, but they walk in there and you look at their labs, their sugar, their cholesterol, their hormone levels. And it's not what you've been taught is the ideal levels for these things. It's not what's going to prevent long term heart attack, strokes, osteoporosis, mood disorders. And then on the other hand, there's times where the patient feels terrible and you're shocked because the labs look fantastic, all the metabolic parameters look great.

You think you're walking into that visit saying, “we're great, here's our prescription for renewal,” and the patient feels terrible. It's really difficult to reconcile those two things, because the way the patient is feeling doesn't always match up with what you're seeing on the lab results.

We know what we're doing because we've been doing the same thing for the last 70 years, but it's not the best option. There has to be a better way.

SUPER: Navigating Guidelines in the Treatment of Congenital Adrenal Hyperplasia (CAH)

[Dr. Lubitz]

I really try to follow guidelines to guide our clinical practice, but in this condition, congenital adrenal hyperplasia, the most recent guidelines are from over five years ago.

Those guidelines are great about giving us really good rules for, “don't normalize the 17-Hydroxyprogesterone,” or “try to focus on your androstenedione testosterone levels.” But I know the newer stuff is actually even looking at all these adrenal precursors that, like, I never even learned about in medical school as ways to treat the disease better.

As an adult endocrinologist, I'm going through guidelines which are not focused on adult endocrinology that much. The guidelines really talk about growth and puberty, but that's not part of my clinical practice. I do have to still worry about adrenal rest tumors. But again, the guidelines, they're not differentiated between what's important for a newly diagnosed child with this condition and an aging, elderly adult with this condition.

So I have to pick and choose when I'm going through the guidelines what actually relates to me and my clinical practice.

SUPER: Balancing Treatment Regimens

[Dr. Lubitz]

When we talk about treatment of congenital adrenal hyperplasia we're trying to replace the glucocorticoids that are missing. So, if somebody is not able to make cortisol or they're not able to make cortisol and aldosterone, we need to replace those hormones.

Ideally you would want to replace those hormones in the most physiologic way, the way that the body naturally makes those hormones. And you would want to completely mimic what the body naturally does, because that's how the hormones are supposed to be made. However, in congenital adrenal hyperplasia, we have another whole goal of treatment, which is to reduce the adrenal androgens. And in order to do that, we have to take everything that we know about physiologic glucocorticoid replacement and throw it out the window and use this really supra-physiologic amounts of glucocorticoid in a really timed pattern, which is not like normal diurnal variation and give a huge dose of glucocorticoid in order to trick the brain into not making as much corticotropin releasing factor, which then hits the pituitary and tells the pituitary to make ACTH, which then hits the adrenal glands. And you're trying to reduce that ACTH. You're trying to reduce that corticotropin releasing factor. And that's a whole other part of the treatment.

So if you're not doing a good job with that, the adrenal androgens are too high and you're going to have side effects of hirsutism, infertility, sexual dysfunction, acne. If you're doing a really good job of that or you're over treating it, you're going to have glucocorticoid side effects, which is weight gain, obesity, cardiometabolic risks, insulin resistance, high triglycerides, high cholesterol, musculoskeletal complaints. Just giving high doses of glucocorticoid at night can affect sleep patterns, can affect metabolic response, so you're just in this balancing act always of which is worse, the treatment or the disease. And trying to balance that out.

SUPER: Addressing Critical Unmet Needs in CAH Treatment

[Dr. Lubitz]

The most critical unmet need in the treatment of classic congenital adrenal hyperplasia is finding some sort of treatment option that gets to the root of the problem. We are using glucocorticoids to both treat the glucocorticoid deficiency, as well as to kind of trick the negative feedback system into allowing the body not to make so much adrenal androgens. And there just has to be a better way to balance that.

My goal for classic CAH patients is to have an improved quality of life. If you could decrease the pill burden and improve the glucocorticoid side effects without still having them afraid every day of going into adrenal crisis, that would be a wonderful goal. It would just be a wonderful goal for patients with classic congenital adrenal hyperplasia to be able to replace the hormones in a more physiologic way.

My approach is being willing to try new things. I think that's the key to success. There's never going be, “this is your glucocorticoid treatment regimen, and this is going to be the exact same doses and the exact same timing that somebody is going to need for the rest of their life.”

You have to be willing to try different timings, try different steroid doses, try new things, and everything is trial and error. So, a patient is not going to do that unless you've earned their trust in the idea that, hey, we're going to try something new.

It might be worse. If it's worse, we can always go back to what we were doing before. But it might also be better.

And every time you're willing to try something new, it's going to take weeks to months to see if it's really working. But you're never going to achieve the best quality of life and the best long-term outcomes without being willing to try something new.

SUPER: Learn more at WhatTheCAH.com/HCP

Length: 05:34

INTRO SUPER: Expert Insights on Congenital Adrenal Hyperplasia

SUPER: Managing CAH Throughout Childhood and Adolescence

SUPER: Dr. Ahmed Khattab, Pediatric Endocrinologist, Rutgers Robert Wood Johnson Medical School

[Dr. Khattab]

I'm Doctor Ahmed Khattab. I'm a pediatric endocrinologist in the Division of Pediatric Endocrinology at Rutgers Robert Wood Johnson Medical School.

I'm an associate professor of pediatrics in the Division of Pediatric Endocrinology, and I'm the director of Comprehensive Care Center of the Center of Excellence for congenital adrenal hyperplasia (CAH), which is the only center in New Jersey.

I've been in medical practice for over 20 years, with about 15 years of them focusing in the area of adrenal endocrinology.

I am a pediatric endocrinologist, so most of my patients are under the age of 21. A huge proportion of those patients have other conditions of endocrinology.

Even though we see a lot of patients with CAH in our practice, this is a rare condition, so the proportion of patients with CAH to the other patients in the practice is not too huge. But we care for a large number of patients with CAH in our practice.

SUPER: The Importance of Interdisciplinary Care in CAH Management

[Dr. Khattab]

There's always an ongoing collaboration with a primary care provider of the patient. Since this is a chronic condition, we have a lot of situations where the primary care provider needs to be aware of, namely, sick days, management of stressful conditions, and we need to be on the same page with the primary care provider of the patient or any other provider caring for this patient for another condition.

So, the care for CAH is multidisciplinary in nature. In addition to the pediatric endocrinologist or the endocrinologist taking care of, there may be a surgeon on board, a urologist. There may be a psychologist or a psychiatrist on board, and other subspecialties depending on the age.

The whole team needs to be always on the same page and collaborating for the best outcomes associated with the condition.

The family, the caregiver, the primary care provider, and the endocrinologist usually work as a team. The decision is always a shared decision between the family members and the physician. There are optional treatments at certain points of management of CAH.

That's why the patients need to always be aware of details of the condition, and then, generally speaking, we take a shared decision together.

SUPER: Empowering Patients Through Education in CAH Care

[Dr. Khattab]

The care for CAH is a long journey. Through the years, we educate the patients and their families about disease pathophysiology, what happens inside the body and what are targets of treatment. This way, when the parents understand more, or the family understands more about the condition and the target treatments, we can always make shared decisions possible.

Every patient is an individual case on its own. There is no generic way to say that the quality of life can be improved by XYZ treatment or by achieving certain levels of androgens, but cumulatively over the years, the final adult height, fertility status, growing up period, achieving puberty at certain times, all these contribute to the quality of life in addition to the psychosocial situation associated with the condition.

SUPER: Navigating Pediatric Care

[Dr. Khattab]

Despite being one condition, there are certain times during the management of a patient with CAH where priorities may be a little different. There is the childhood period, there is the adolescent period, there is the adulthood period.

In the very early stages of care, the primary caregiver is the point of contact. So, there's a lot of discussions with the mother, with the father, older siblings, but later on, when the children start becoming aware of their body, we start having discussions with the children about their condition. Peak times, where discussions become a lot more, are times of adolescence and puberty and teenage years, and after that, going to college.

There's always transitional periods of time and transition to adulthood where we talk with the patient as the sole provider for him or herself and then later on, we transition them to an adult endocrinologist.

SUPER: Managing the Transition from Pediatric to Adult Care

[Dr. Khattab]

The discussion for transition of care is not a single discussion. It is not a one-time discussion that we have with the patients; we usually start the conversation many years before the actual transition moment.

We do talk about their expectations, we do talk to them about the possibilities. We start the conversation when patients are applying for college.

If the individual is going to college that is out of state, we a lot of times try to find a center of excellence that's close. The timing of transition depends on a lot of factors, including whether the individual patient is in the state or moving outside the state.

They do require us sometimes to find and work with other providers or other centers of excellence close to the new state they're going to be in. Patients who are remaining within the system, this becomes a little easier because we work with an adult endocrinologist and the transition of care is going to be gradual.

It's very important to have a planned transition.

SUPER: Learn more at WhatTheCAH.com/HCP

Length: 07:02

INTRO SUPER: Expert Insights on Congenital Adrenal Hyperplasia

SUPER: Establishing New Patients with Congenital Adrenal Hyperplasia

SUPER: Dr. Sara Lubitz, Endocrinologist, Rutgers Robert Wood Johnson Medical School

[Dr. Lubitz]

I am Sara Lubitz. I'm an adult endocrinologist at Rutgers Robert Wood Johnson Medical School.

There's a couple of different ways that the patients come into our practice for management of congenital adrenal hyperplasia (CAH). So, the first way, and the way that's the nicest transition wrapped up with a little bow, is when we get the patient directly from the pediatric endocrinology specialists and they're transitioned with this is what their regimen is, this is what their goals of care are. Sometimes, my pediatric endocrinologists even give me goals for adrenal androgens or 17-hydroxyprogesterone levels, they tell me what's worked or not worked in the past.

And again, that's, you know, the adult endocrinologist's dream is to get this smooth transition. The other group of patients I'm seeing, sometimes they were followed really, really closely when they were under the care of a pediatric endocrinologist and they're on that regimen and then life gets in the way. Sometimes, they're not coming to seek out the adult endocrinologist until they've hit some sort of rock bottom where they're still on the same hormone regimen that they were on since they were a kid, even though they're in an adult body and their goals of care are very different.

And they might show up saying, “I'm here now because I was told I have type two diabetes, or I'm obese, or I'm not able to conceive, and this is the time to get back into endocrine care.” So, I'm going to say it's about, like, a third of the patients come from pediatric endocrinology with this nice transition, and the rest of the patients are referred from, sometimes from, reproductive endocrinology, sometimes from primary care doctors, or kind of just show up and say, “I'm ready to get back into care with an expert specialist, with an endocrinologist.”

Ideally, every pediatric endocrinologist and adult endocrinologist has some sort of relationship for these transitions of care. You want to make sure that nothing is lost in that transition, especially with a complicated, rare condition like congenital adrenal hyperplasia. I suggest that everybody have some pediatric endocrinologist that they work with and work with closely, that they could provide those transitions.

SUPER: The Importance of Patient Relationships When Treating CAH

[Dr. Lubitz]

It's really important for the physician, first of all, to have a good relationship with the patient where they could bring up anything. I say to people, you can always tell me. It might have nothing to do with my field of endocrinology, and I might not know about that dental thing. But you know what?

It also might be. It might be high doses of steroids is affecting even your dental health or affecting your mood or something like that. I think it's really important to take a good review of systems where, you know, if the patient is not very forthcoming about how they're feeling on a day-to-day basis and what might be concerning them, then that's why we have the review of systems to fall back on where you make sure you're addressing mental health, and sexual health, and appearance, and hair, skin, and nails, and all these other things that somebody might not bring up to you or even know might be a side effect of the disease or the treatment.

SUPER: Initiating Care for Patients with CAH

[Dr. Lubitz]

In the first visit, I'm really trying to get the history of what, especially like, what medication regimens they've tried in the past, what kind of side effects they've had from those medication regimens. What are the comorbidities? Is there depression, mental health issues going on?

Is there metabolic syndrome-type stuff going on? Have they had their bone density checked?

Have they been assessed for adrenal rest tumors? A lot of times that is way overdue and hasn't been done in a while. And what are their goals of care?

I want to know the history, I want to know what's worked in the past, but then, moving forward, what is the goal of care? What are they trying to get out of the treatment regimen and the visits with the specialist?

A typical patient visit, we'll get height and weight on everybody, whether they want to get it or not, because that's an important part about deciding if we're doing a good treatment regimen. We'll go over labs. So, I want someone to come to the office with new blood tests done. And that's a whole, you know, rabbit hole of trouble in itself in that, what blood tests are you doing and what is the timing of when it's being done? And what's the timing of when the hormones are being checked in relationship to what steroid regimen you're using? And are they doing it at the same time each visit, or is it at totally different times and you're comparing apples and oranges? So, I want to have the labs with, in front of me.

When they're sitting down at that visit, I want to have the vital signs, I want to know what other medications they're on, I want to also ask what's been happening in between the last visits. How often are they having to stress dose their glucocorticoid?

Are you compliant, even, with your steroid regimen? If it's one of these regimens that we're trying to use lower doses of steroid spread throughout the day, it's really hard to take a medication multiple times a day. So, I try to establish that relationship that we could even be honest. Like, how often are you missing that midday dose?

A lot of times, it's just, they're not happy with, again, gaining some belly weight or changes in hair and skin or having a little bit more acne, a little bit more hirsutism. So, you have to get into that uncomfortableness with the patient to get them to speak up and tell you what's really bothering them and what may require a change in the treatment regimen.

SUPER: Coordinating Multidisciplinary Care for CAH

[Dr. Lubitz]

This is a multidisciplinary condition that requires multiple specialists to be involved. So, we need to be on the same page as the primary care doctor.

So, it really takes communication with the primary care doctor, who may not understand that this is not the same as everybody else who's developing insulin resistance or high cholesterol, high blood pressure.

There is, a lot of times, people seek out reproductive endocrinology or they'll go to urology having sexual dysfunction. A lot of times, the doctors in the other field, as soon as they hear “congenital adrenal hyperplasia,” a lot of them are just like, “okay, hold off. Well, you know, like, you need to go see a specialist or we need to communicate with a specialist.”

And it's a good way to establish a line of communication with other specialists in our area. The coordination of care with other specialists and with the primary care doctor is so important.

So, one of the wonderful things about being a physician and being an adult endocrinologist is I get to have a long-term relationship with my patients, so we get to have that long view of goals of care and how it changes. So, it's wonderful for me as I watch a person go through each of their fertility, having a baby, and then, as they're aging, being able to think about what they're at risk for, how to make them have as little morbidity and mortality so that they can watch their grandchildren.

It's such a gift as a physician to be able to treat somebody through all of their life stages, to go through that with them.

SUPER: Learn more at WhatTheCAH.com/HCP