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Transcript: NICHD Research Perspectives—August 26, 2013

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Announcer: From the Eunice Kennedy Shriver National Institute of Child Health and Human Development, part of the National Institutes of Health, welcome to another installment of NICHD Research Perspectives.

Dr. Constantine Stratakis: Hello, and welcome to another installment in our monthly series of podcasts. My name is Constantine Stratakis, and I direct NICHD’s intramural research program.

Today we’re going to talk about a part of the body that doesn’t get a lot of attention—the adrenal glands, part of the endocrine system. These glands, perched atop the kidneys, are small, but they have a big job to do—helping the body respond to stress. You might have heard of fight or flight—the body’s survival response that kicks in during high-stress situations. Well, that response is due in large part to the work of the adrenal glands and the hormones they produce.

The two main hormones that the adrenal glands make are called cortisol and aldosterone. Cortisol helps regulate blood pressure and blood sugar levels and helps metabolize fats, proteins, and carbohydrates. Aldosterone helps control blood pressure, too, and manages the amount of salt and potassium in the body. The adrenal glands also make the hormones adrenaline and noradrenaline, which are also important in helping the body handle stress. We need all of these chemicals, at the right levels, to keep our bodies in good working order.

Most of the time, the adrenal glands go about their business without any problems. But sometimes, in rare instances, adrenal hormone levels rise too high or fall too low. And that can mean trouble.

There are all sorts of things that can cause adrenal gland disorders—a genetic disease, an infection, overuse of certain medications, or a tumor on the adrenal glands or a related endocrine gland.

And depending on the disorder, there can be a variety of symptoms: obesity or weight loss, high blood pressure or low blood pressure, anxiety, weakness, or early onset of puberty, among many other problems.

The good news for patients and their families is that adrenal disorders are easier to treat now than ever before. Today we have artificial hormone replacement therapy to help patients with deficiencies and effective medicines for patients who overproduce hormones. We also have noninvasive surgical techniques, thanks to robotics and lasers, to more easily remove tumors or malfunctioning adrenal glands.

This wasn’t always the case. Fifty to sixty years ago, the only replacement hormones that doctors could prescribe came from animals or human cadavers, and a diagnosis of an adrenal disorder could be a death sentence. We’ve come a long way since then, and a lot of that is due to research done right here at the National Institutes of Health and the NIH Clinical Center.

Today, we have with us three guests who’ve worked at the Clinical Center, researching adrenal disorders in children and youth. They’ll talk about what happens when the adrenal glands don’t work the way they’re supposed to and how research is helping us solve those problems. Maya Lodish is a staff clinician in NICHD’s Program on Developmental Endocrinology and Genetics and is deputy director of our training program on pediatric endocrinology. Mitra Rauschecker is a graduate of our adult endocrinology fellowship program. She now serves as an assistant professor at Johns Hopkins University and practices medicine at Sibley Hospital in Washington, D.C. Last, but not least, is Meg Keil, a senior nurse practitioner who helps care for patients in our clinical trials and who also serves as an associate clinical director in our clinical director’s office.

Maya, let me start with you. Can you tell us about some of the most common adrenal disorders in children and how you treat them?

Dr. Maya Lodish: Certainly. So, if the adrenal glands aren’t functioning correctly, the problem could be inside the adrenal gland itself or outside the adrenal gland in the hypothalamus or pituitary, which control the adrenal gland. In children, you can talk about problems that are related to the adrenal gland secreting too few or too many of the hormones. So, Addison’s disease happens if the adrenal glands don’t make enough of these hormones; and this is usually caused by a problem with the immune system, which mistakenly attacks your own tissues, damaging your adrenal glands. The symptoms of this could include weight loss, muscle weakness, fatigue, low blood pressure, or dark patches on the skin. And if a child has Addison’s disease, they need to take hormone pills for the rest of their life, and they need to carry an emergency identification card that explains to those around them that they would need extra steroids in case of an emergency.

Cushing syndrome is another endocrine disorder in children that is related to the adrenal glands, and this occurs when there is excess secretion of cortisol. It can also be caused by excessive or prolonged use of steroids in children. And when this occurs, the patients can have a characteristic round face, obesity, high blood pressure, poor growth, diabetes, and weakness. And, if patients have Cushing syndrome, it can be due to a tumor of the adrenal gland itself or to a pituitary tumor that’s causing the adrenal gland to make too much cortisol.

Other adrenal problems in children include pheochromocytoma, which is a rare tumor of the inside part of the adrenal gland, the medulla, that secretes excessive amounts of the hormones epinephrine and norepinephrine, which are the fight-or-flight hormones that cause high blood pressure. In children, another problem that we find in the adrenal glands is called congenital adrenal hyperplasia, which is a group of genetic disorders that affect the adrenal glands, that cause excess hair growth in girls, early development in boys and girls, and puberty occurs too early in children; and this can be related to disorders in the enzymes that help to make the hormones in the adrenal gland.

The NIH is studying many of these conditions, and many of the breakthroughs in the treatment for these conditions have been found at the NIH itself. We have a large protocol to care for children with Cushing’s syndrome, a protocol for pheochromocytoma, as well as studies looking at congenital adrenal hyperplasia in children here at the NIH.

Dr. Stratakis: Now that we know that adrenal disorders can relate to other health problems for patients, you’ve done work on the connection between adrenal dysfunction and polycystic ovarian syndrome, a health problem that affects many women. Tell us about what that is, and how the adrenal glands play a role. What have we learned through research in this area?

Dr. Lodish: Certainly. So, polycystic ovary syndrome is a very common disorder occurring in young women, and it consists of hyperandrogenism, or elevated levels of the male hormones with sometimes signs of excess body hair; polycystic ovaries; and irregular menstrual cycles. And there’s still a lot that we do not know about this condition in terms of its etiology and how to best treat this disorder. One of our suspicions at the NIH, our hypothesis, is that for a certain subgroup of these young women, their polycystic ovary syndrome is actually due to problems within the adrenal gland itself. And in order to further investigate this, we’ve been bringing young women to the NIH to undergo studies to further characterize the adrenal secretion of steroids in polycystic ovary syndrome. And we’re learning that there are elevated levels of certain steroids that are specific to women with polycystic ovary syndrome, and this finding has important implications to better understand the disease and to offer new treatments.

Dr. Stratakis: Very interesting. Thank you so much, Maya. Mitra, I’d like to turn to you next. One of the things you emphasize is the importance of screening for adrenal disorders. What types of screenings are currently available, and why are these screenings so important?

Dr. Mitra Rauschecker: Screening for these diseases is critically important because these diseases are potentially curable. Excess aldosterone is thought to be responsible for up to 10 percent of high blood pressure cases, and proper screening can lead to better, more focused treatments for high blood pressure or can even be cured in some cases. Screening for excess cortisol can lead not only to a cure of high blood pressure, but also obesity as well as many other problems caused by cortisol. Proper treatment for both aldosterone and cortisol, as well as other adrenal disorders, can prevent long-term complications, including heart attack, stroke, and diabetes. If left untreated, these diseases can often be fatal.

Screening for adrenal disorders can be done through the use of simple blood or urine tests. Depending on the disease, your doctor may order a blood test to check the level of aldosterone hormone in the blood, or they can measure the amount of cortisol in your urine. Another test involves taking a steroid medication and checking the level of cortisol in the blood the next morning. These tests can demonstrate an inappropriate elevation of either cortisol or aldosterone or other adrenal hormones in your body and can prompt further confirmatory testing, which can lead to proper treatment.

Dr. Stratakis: What research is going on in this area? Is there anything new on the horizon with the potential to affect clinical practice or prevention efforts for adrenal disorders in the future?

Dr. Rauschecker: There’s a great amount of research to help determine the underlying genetic cause of adrenal tumors. Recent research has indicated a number of new genetic mutations that can lead to the development of adrenal tumors that produce excess aldosterone and cortisol. These mutations have also been found in a number of other related diseases, and they may help us better understand how tumors form in general. In addition, there has been research into studying patients with these diseases before and after treatment, so that it can be determined if some patients do better than others, whether as a result of the type of treatment or as a result of their specific genetic makeup. This research will help us better predict how patients will respond to treatment in the future. Other research is focusing on trying to identify tumor markers in order to make the diagnosis of these diseases easier.

Dr. Stratakis: Thank you, Mitra. Meg, so far today, we have talked a lot about the physical problems that adrenal disorders can bring, but we know that’s just one part of the issue in taking care of patients. What is the emotional impact of living with an adrenal disorder?

Ms. Meg Keil: The emotional impact of an adrenal disorder is something that our patients often discuss with me. Living with an adrenal disorder affects many aspects of a person’s life, not only coping with the many physical changes, but also adjusting to changes in emotional well-being, cognitive and behavioral effects, and overall quality of life for the patient. The good news is that with proper treatment, as well as good nutrition, exercise, emotional support, people with adrenal disorders have few if any limitations. I often discuss with patients that it’s important to keep in mind that the symptoms they develop with an adrenal disorder develop over time, and after treatment, recovery will also take time. No two people are exactly alike. So the recovery process varies from person to person.

Most importantly, we emphasize to our patients who are recovering from treatment of an adrenal disorder that they need to have patience and ask for help when they have concerns or questions or are feeling discouraged. Given ample time, patience, and support, people living with an adrenal disorder will experience improvements in their quality of life.

I’d like to mention results of research studies conducted at NIH and elsewhere that have shown that alterations in hormone levels caused by an adrenal disorder impact the brain in many ways, including our emotions, our behavior, cognitive function, and quality of life. The children and adolescents who participated in our endocrine studies at NIH helped us to gain a better understanding that the effects of hormones on the developing brain are different from what happens with adults. We continue our research on the effects of alterations in hormone levels on the developing brain of children and adolescents so we can identify ways to diminish the psychological burden and improve quality of life for these patients.

Dr. Stratakis: Thank you, Meg. We’ve talked about how far along we’ve come in treating adrenal disorders—how new medicines and surgical techniques have allowed patients to survive well into old age. But how do patients with chronic adrenal disorders manage their symptoms throughout their lives?

Ms. Keil: That’s a very good question. I think the most important factor is establishing a good relationship with the health care team and multidisciplinary health care team—that would include the endocrinologist, primary care provider, the endocrine nurses, a dietitian, physical therapy, a social worker, a psychologist—and utilizing these resources is the best way to facilitate the recovery process and effectively manage any symptoms. The health care team that has an expertise in caring for patients with adrenal disorders can provide education and identify resources, as well as serve as advocates for their patients. There are a number of excellent patient support groups available to provide education and support to individuals and their families, and we encourage our patients to get involved with these support groups.

Dr. Stratakis: Thank you, Meg. And I’m sure you are all available to our patients here at the NIH and elsewhere for further questions. Thanks, Maya and Mitra. I appreciate all of you for being on today’s show, but more important, for the research you’re doing to help patients and families dealing with adrenal disorders.

I don’t know if I ever told you, but the whole reason I got interested in endocrinology in the first place was because my brother, at the age of 12, had a brain tumor and had to have his pituitary gland removed. Because of research advances that led to the development of artificial hormones, he is alive and well today and he is receiving, throughout his life, cortisol replacement. Because of research advances, this is possible. So my interest in endocrinology research isn’t just professional—it’s really personal. And I think I can speak on behalf of all the other family members out there who would urge you to keep up the great work you are doing here at the NIH.

Well, that brings us to the end of our podcast for this month. Thanks to our listeners for tuning in. If you’re interested in learning more, you can visit NICHD’s website, Adrenal gland disorders are listed under the A to Z Health Topics, and there you’ll find plenty of details about different adrenal conditions and the research that we’re doing on each one of them.

I’m Constantine Stratakis, and I hope you’ll tune in next month, for more NICHD Research Perspectives. Thank you again.

Announcer: This has been NICHD Research Perspectives. To listen to previous installments, visit If you have any questions or comments, please email


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Last Reviewed: 08/29/2013
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