Endodoc

In my last entry (June 8, 2009), I began a discussion about why, given how much we now know about preventing diabetes complications, patients still get retinopathy, neuropathy, nephropathy, and cardiovascular diseases.  I presented thumbnail sketches about 3 adolescents with type 1 diabetes whose medical histories ran the gamut from excellent to poor diabetes control.  Now I want to explore the subject in some detail.

What do we know about the relationship between the quality of diabetes care and the risks for developing chronic complications of the disease?

First, long-term studies such as the Diabetes Control and Complications trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC) and the United Kingdom Prospective Diabetes Study(UKPDS) have shown clearly that development and progression of all major diabetes complications are strongly related to 3 factors- blood glucose control, blood pressure, and blood lipid levels.  So, simply put, the risk factors for diabetes complications are blood glucose levels, blood pressure levels, and cholesterol levels.  These risk factors are all controllable; hence, in 2009 it is possible to have diabetes, and with proper treatment, be at little or no risk of developing diabetes complications.  That is good news indeed.  Unfortunately, what is possible, is not happening for many people with diabetes; diabetes remains a leading cause of vision loss, nerve damage, kidney failure, and heart disease.

How can we tell if a person with diabetes is actually doing well in managing the condition?

It’s pretty easy for a physician to assess how well people with diabetes are doing in terms of the known risk factors for the development/progression of diabetes complications.  First, just measuring the blood pressure covers that risk factor.  Second, just measuring blood lipid levels covers another major risk factor.  Typically, physicians order a fasting lipid profile which measures blood cholesterol, tryglycerides, LDL-cholesterol (“bad” cholesterol), and HDL-cholesterol (“good” cholesterol).  Third, physicians can assess blood glucose levels by ordering  hemoglobin A1c (also called the A1c test).  The A1c test measures the amount of glucose attached to a person’s red blood cells, which is directly related to the average blood glucose level over the previous 3-4 months.  This test has been shown to be a powerful risk predictor for the development and progression of all diabetes complications (you might want to check out some of my previous entries that discuss this test in great detail).  In summary, all it takes is a stethoscope, a blood pressure cuff, and a bit of blood to assess/monitor risks for the development/progression of all diabetes complications.

Measuring risk vs. doing something about it

So, it’s quite easy to assess how well a person with diabetes is doing in terms of their risk for developing this or that diabetes conmplication.  It’s quite another thing to actually modify (i.e., decrease) a person’s risk factors once it has been determined that risks for this or that complication are increased.  For blood pressure and lipids, assuming the patient will remember to take a pill reliably (and can afford the medication), improving risks is easy.  For blood glucose control it’s not so simple since the solution generally requires that patients make changes in the way they manage their diabetes.  This is the area that I want to focus on in my next entry.

Last week I had a very interesting clinic in which the first 3 patients were teenagers with type 1 diabetes.  The first patient was a 16 year old boy with onset of diabetes at about age 6 years.  He was being treated with an insulin pump and had always done extraordinarily well with his diabetes care.  He never missed clinic visits, he tested blood glucose levels 4-6 times daily, he made appropriate insulin dose adjustments, and he never had a hemoglobin A1c over 7% (that’s the test that measures overall blood glucose control during the preceding 3-4 months and is a strong risk predictor for the development of diabetes complications).  The second patient was a 16 year old female with onset of diabetes at age 7 years.  She was being treated with an insulin pump and had always done reasonably well with her diabetes.  She rarely ever missed clinic visits, she tested blood glucose levels 3-4 time daily and usually made appropriate insulin dose adjustments.  Her hemoglobin A1c levels had been consistently in the 7.5-8% range.  The third patient was a 16 year old female with  onset of diabetes at age 9 years.  She was being treated with an insulin pump and had never done particularly well with her diabetes self-management.  She tested blood glucose levels 1-2 times daily at most and not at all on some days.  She had a history of several hospitalizations with diabetic ketoacidosis.  She occasionally missed clinic visits.  Her hemoglobin A1c values had been in the 8.5-9% range up until about age 12 years, and in the 11-12% range thereafter.

Enter the “shadowing” students

That particular clinic day I had 2 undergraduate pre-med students following me around- they call that activity “shadowing,” and the idea is that students can get a feel for  what medicine practice is really like before they actually decide to make a career of it.  One additional practical reason for pre-med students to shadow is that most medical schol admission committees look more favorably on applications that list shadow experiences than those that do not (personally, I wouldn’t think more or less about an applicant based on his or her shadowing experiences).  Anyway, after we had seen the 3 teenagers with diabetes, one of the students asked me why the first patient was doing so well and the last patient so poorly.  It was a great question but I was not able to give a very good answer.  I told the student that I didn’t really understand why some patients with diabetes do so well and others so poorly, even when cared for by the same physician.  We then had quite a long discussion about what is known about patient compliance and why the question was so important in diabetes.

Why Do Patients With Diabetes Develop Chronic Complications?

First, the chronic complications of diabetes can be divided into so-called “microvascular complications,” those of the eyes, kidneys, and nervous system, and “macrovascular complications,” those of the heart and blood vessels.  Although we still have an imperfect understanding of the precise mechanisms responsible for the various complications, we do know  there are 3 principal risk factors involved: blood glucose levels, blood lipid levels, and blood pressure levels.  These risk factors account for approximately 90-95% of the risks for the development and progression of the various diabetes complications.  These risk factors are also treatable and I don’t think I am being overly optimistic when I say that we know how to prevent almost all diabetes complications.  Yet, many patients with diabetes are still developing these devastating complications at enormous personal and societal costs.  So, what gives?  This is really the question that my shadowing student asked.

Over the next few weeks, in a series of entries, I want to explore this question of why some patients with diabetes do better than others.  Perhaps, that is the most important question we should be asking these days in the management of patients with diabetes.  If we can come up with some answers, perhaps, short of a cure, we can have a menaingful impact on long-term outcomes.

Just a “FYI” in case you are interested- there is a “Letter to the Editor” in the New York Times today that summarizes pretty well my thoughts about the necessary approach to fixing the U.S. health care mess.  As I have discussed ad nauseum in earlier entries we cannot control costs with out having some form of universal health coverage and we cannot have universal health coverage without controlling costs.   I would add to the comments of Arnold Relman and Marcia Angell, both former editors of the New England Journal of Medicine, that to control costs to the extent that we will be able to afford high quality universal health care coverage we must do much more than simply trim administrative and technology costs; we must completely revamp the way we pay for all aspects of health care.  For example, what kind of system do we have that pays a physician less than the office overhead for a patient visit yet pays $2000 for a wheelchair that sells for $200?

One More thing

As I read about and listen to radio and television news reports about the current debate on how to fix our health care mess, I am becoming increasingly concerned that the main focus of the debate seems to be whether to have a government run single payer system or a system built on private insurance (or a combination of the two).  It seems clear to me that the majority of people in the U.S. are leary of switching to a government run single payer health care system at this point and there is no need; as I have discussed in earlier entries, we should build on what we already have in place rather than debating topics about which we will never come to any consensus and which will keep us from moving forward.  We can control costs and achieve universal health care coverage but there will be considerable pain for many of those who have gotten fat at the health care feed trough.

Those of you who have been faithfully but foolishly following my entries about the U.S. health care , know that one of my big concerns has been the shortage of primary care health care providers.  In today’s New York Times, there is an excellent article that lays it all out.  The article is entitled “Doctor shortage proves obstacle to Obama goals,” and was written by Robert Pear.  The U.S. currently has about 90 primary care physicians for every 100,000 people (I don’t know what the number would be if the primary care nurses were thrown in too).  I haven’t seen any data showing what that number should be ideally, but most experts agree that we are far short of even an adequate number.

Why don’t we have enough primary care providers?

One reason for the shortage of primary care physicians is that few physicians want to go into primary care: in 2007 only 17% of medical graduates said they intended to go into primary care.  I would be very surprised if the percentage is any higher now.  It seems that every medical student I see in my clinics intends to go into either dermatology or radiology.  Why is that?  It’s simple- $$$$$ + lifestyle.  Specialists generally make much more money than primary care providers and most (not all) have easier jobs (I am a specialist and I am not afraid to say it- I hope my specialist friends who work really hard don’t read this).  The immediate question is how to pay primary care providers more.  The debate is framed nicely by Mr. Pear in his article.  Specialists agree that primary care providers need to be paid more but the specialists don’t want that pay increase to come from their incomes.  I’m sure it’s already an ugly debate and I predict it will get much uglier before the dust settles.

The bottom line

We desperately need many, many more primary care physicians, nurses, and whatever.  It will take time- years and years to achieve the desired levels.  We need to get started.  It will cost some money but it will be worth it.  With respect to the debate about shifting payments from specialists to primary care providers, I will offer no opinions except that I predict someday soon, primary care providers will be serving as “gatekeepers” for speciality care services.  Assuming I am correct, specialists would be wise to remember that their livelihoods will to a great extent depend on referrals from primary care providers.  Of course, another way to look at the issue is that the major cost reductions we need to achieve in our health care system, are less related to direct payments to physicians but rather for the unreasonably costly services physicians generate (e.g., procedures, medications).  We would probably do better not to delude ourselves into thinking that speciality physician salaries are an important part of the astonishingly high U.S. health care costs relative to other civilized places around the world.

This AM, I heard part of an NPR report on a survey conducted about patients’ attitudes about EHRs.  I didn’t catch all of the report but I gathered that people were more or less skeptical that EHRs would save much money.  Frankly, I was surprised that anyone asked the general public what it thought about EHRs since few people have had any real experience with EHRs.  I would consider the results of the study more or less useless.  EHRs are fabulous (as I have discussed earlier) but are not often used in the U.S.  Who cares of they save any money, if they markedly improve patient care?  No question- setting up and using EHRs cost more than the traditional approach to medical records- mostly illegible physician notes and reams of nicely typed hospital record sheets with illegible notes and nicely typed laboratory test results.

How to use EHRs effectively

It’s nearly driving me crazy that we (physicians and patients) have not figured out how to use EHRs effectively.  Let me suggest the following: assign every person to a “medical home” or MH .  The MH could be a large hospital/clinic system with outlying clinics or whatever.  Anyway, if every person in the U.S. had a primary care doctor or nurse or whatever, who was affiliated with the MH, the primary care provider and the patient could jointly take  responsibility to update the EHR which is maintained by the MH.  Thus. at least within the MH each patient’s EHR would be easily accessed by authorized providers or the patient.

How do I know we can do this?

Most of us already have electronic records maintained at our local banks, national investiment banks (e.g., Vangard), and utility providers.  These providers have a databases that we can access if we have user names and passwords.  We can do the same with EHRs.  Finding a way for all providers to have access to all EHRs is a bit trickier but that’s far less important than the first step- a medical home for every person.  I assure all of you that we can do it.  It will be a wondrous thing.

The subject of EHRs must be a really “hot” topic these days since in almost any medical journal or newspaper I pick up there is something about EHRs.  For example, yesterday’s New York Times (Saturday, April 18, 2009) had an article in the “Patient Money” section entitled “Some caveats about keeping your own electronic health records,” written by Walecia Konrad.  The article was a well written general discussion about  patient-controlled EHRs (these are often called personal EHRs).  It was clear from the article that just as U.S. hospitals are a long way from wide-spread use of EHRs, the same is true for personal EHRs.  In fact, the article contained an interview with Dr. Ashish Jha, who was the lead author of the New England Journal of Medicine article I wrote about yesterday.  That study surveyed U.S. acute care hospitals and found that fewer than 10% were using EHRs in any meaningful way and fewer than 2% that switched over entirely to EHRs.  In the newspaper article, there was even a photo of Dr. Jha (it’s always nice to put a face with a name), as well as a quote: “we’ve got a long way to go before we get there,” referring to universal use of patient-controlled online health records that can be shared with physicians.

Anyway, I am yet to be convinced that patients should bother just yet with trying to put together a detailed EHR.  It would be much easier if we had a real health care system and in that system every patient had a primary care provider (physician or nurse practitioner or whomever) who had a comprehensive EHR on every patient in the practice.  Of course that EHR would need to have data from specialists the patient might have seen, results of all laboratory tests performed, and so forth.  In this way, all the patient would need is easy access to his or her EHR, which eliminates the need for the patient to do much of anything to have a personal EHR.  I believe that in the long run, that’s how EMRs will work.  In the short run, everything is up in the air, largely blown about by the $17 billion the U.S. Congress just budgeted to stimulate the development of EHRs.

A few days ago (April 15, 2009), I posted an entry about EHRs.  I should have waited because that very afternoon what should appear in my mailbox but  the most recent issue of the New England Journal of Medicine with an article about U.S. hospitals and EMRs.  The article was written by A.K Jha and others and entitled “Use of electronic health records in U.S. hospitals.”  The authors all of whom are from either Boston or Washington, D.C., surveyed use of EHRs in all acute care  general medical and surgical hospitals in the U.S. that are members of the American Hospital Association (AHA).  The survey was conducted between March and September 2008 and included almost 5000 hospitals.  The investigators received responses from 3049 hospitals or about 63% of those sent surveys.  They found that only 1.5% of the hospitals had  comprehensive electronic-records systems (comprehensive meant that all of the hospital’s clinical units were using EHRs).  Another 7.6% of hospitals had  basic systems, meaning that at least one clinical unit was using EHRs.  Even a greater percentage of reporting hospitals had in place at least parts of  EHR systems such as use of EHRs for results of laboratory and radiological reports.  Surprisingly, the perceived barriers to adoption of comprehensive EHRs were similar in those hospitals that had implemented at least some EHRs and those that had not: initial costs; maintenance costs; uncertain return on investment; inadequate IT staff; and physician resistance.  By far the greatest perceived barrier was inadequate capital to purchase an EHR system.  The investigators concluded that among the hospitals that participated in the study, although few hospitals had even  basic EHR systems in place, many hospitals had parts of  systems in place and that governmental policymakers hoping to promote wider use of EHRs should focus on financial support, interoperability, and training of IT support staff.

What is the U.S. government doing to promote widespread use of EHRs?

The U.S. government has taken big steps to “push” the medical community into the use of EHRs.  If you are interested in the subject, I strongly recommend you check out 2 recent articles in the New England Journal of Medicine.  The first, written by Kenneth Mandl and Isaac Kohane was entitled “No small change for the health information economy.”  The second, written by David Blumenthal was entitled “Stimulating the adoption of health information technology.”  Both articles discuss the recent measures taken by the U.S. government to promote use of EHRs through the American Recovery and Reinvestment Act of 2009.  The Act uses both carrots and sticks by offering both rewards in the way of cash payments and punishments in the way of lower reimbursements for patient care services depending on whether institutions and medical practitioners get with it (i.e., implement or do not implement EHR systems).

I must say that I think the U.S. government has perhaps taken on too much now in terms of the rapidity with which the “required” changes must be implemented.  I am particularly concerned that we (i.e, health care administrators, physicians, the general public) don’t yet have a medical care system in the U.S. that could be reasonably considered anything close to a real system and that we haven’t really figured out exactly what we want our EHR system to be as part of the overll not yet existent health care system.  It will be very interesting to see if the “money on the table” helps to sort these things out or if we end up with a bigger mess than we have already.

What is all this business about electronic health records?

Traditionally, physicians and other health care providers have documented patient encounters by writing illegible notes in medical charts.  If the patient encounter is is with a medical specialist or is an emergency room or urgent care clinic visit, and if the patient has a primary care doctor, a typed letter or report is typically written and sent to the primary care doctor , and maybe also to the patient.  When patients are admitted to hospital, admission, progress notes, and discharge summaries are generally hand-written but typically the admission and discharge notes are also dictated and typed for the medical record and possibly for the referring physician.  So, depending on a patient’s medical history (i.e., rare vs. frequent hospitalizations), traditional hospital charts range from small folders to giant multi-volume tomes of data, mostly unreadable (and often unliftable) except for the typed notes and printed forms with test results.  Most physicians with office practices maintain so-called “shadow charts” on each of their patients which typically contain illegible clinic notes and correspondence, much of which does not appear in the hospital chart- this is complicated since some patients receive care at several different hospitals so that a complete record of their hospitalizations is not available in one location.  Get the big picture? In the past (and in the present for many physicians) patient health care records, particularly those in physicians’ offices are not particularly useful when it comes to allowing communication among physicians and other health care providers about patients’ health history.

Welcome to the age of computers, databases, and the internet

Over the past 5-10 years there has been a slow but steady revolution in the way medical records are constructed and used.  Electronic health records (EHRs) are being used increasingly in routine patient care.  There are 2 main forms, the stand-alone personal health record (PHR) and the so-called integrated PHR.  The former is typically an electronic record used within a single hospital or hospital/clinic system.  For example, a group practice might have a system that allows generation of an electronic note for each patient encounter that becomes part of the institutional patient record database.  The information is collected either from dictations that are transcribed and entered in to the database or keyed in directly by the health care provider.  The institution might generate a typed note that can be placed in the clinic shadow chart, sent to a referring physician, etc., or not generate any paper unless there is a specific need; once the information is entered into the database it can be retrieved easily whenever needed.

The second form, the integrated PHR, allows access to the patients’ data by health care providers or other, including patients who are not part of the individual institution.  Theoretically, this model would allow a physican in a Seattle emergency room treating a patient from St. Louis to have rapid access via the internet to the patient’s medical records.

These 2 forms of EHRs are discussed in an excellent article recently published in the New England Journal of Medicine (Pang PC, Lee TH. Your Doctors Office or the Internet?  Two Paths to Personal Health Records.  N Eng J Med 2009;360:1276-8).  If this subject is of interest to you (it should be), I recommend that you check it out.

My experience with EHRs

The other day there was an excellent article in the New York Times about EHRs (NYT April 11, 2009).  The article was entitled “A rural medical practice moves to digital records, and the doctor is pleased,” and written by Milt Freudenheim.  The article  describes the move to EHRs in a rural Kansas solo medical practice and how beneficial this has been in terms of improving patient care and also in terms of the physician’s satisfaction. The article alos discussed the “down” side of EHRs- the cost; it is difficult to set up even a simple system for less than $40,000-$50,000.  Reading this article made me think about my own experience with EHRs.

My institution, the University of Missouri Health Sciences Center introduced EHRs 6 or 7 years ago.  Prior to EHRs I maintained shadow charts on my patients and dictated clinic notes which were transcribed and typed copies were sent to the hospital chart, to me, and to whomever I indicated needed a copy of the note.  Hospital admission and discharge notes were dictated, transcribed, and copies were placed in the hospital chart, and sent to me for my shadow chart, and to whomever was listed in the dictation (e.g., the primary care doctor).  When we switched to  EHRs, all dictated notes were transcribed, entered into the  the institution database and typed copies distributed to whomever was listed in the dictation.  I could dictate my clinic notes from any telephone, in town or out of town and I could also look up any dictated notes from any computer with internet access.  All laboratory test results were also entered into the database.  Recently, efforts are being made to have physicians and other health car providers at our institution type their own notes which are entered directly into the database with no paper copies unless distribution is requested for another physician, or perhaps, the patient.  Thus, the institution has made major efforts to more or less eliminate the transcription process and all paper records, including shadow charts.  Obviously, this approach requires that computers be available throughout the hospital and clinics and within the clinics, in examination rooms.

So, am I on board with the revolution?

First, in general, I love EHRs.  I love being able to tap into the database whenever I want to and from wherever I might be as long as I have access to the internet.  This greatly simplifies patient care ,and I think, improves it appreciably.  During a patient’s clinic visit, I can quickly look up a laboratory test result that I had not seen earlier.  If I can’t find the patient’s shadow chart, not to worry, as I can quickly get at whatever information I need such as the last clinic visit note.  I can also communicate more easily with other health care providers regarding the patient.  For example, I recently received an e-mail from a former patient who was requesting medical records for an upcoming clinic visit with a new doctor in another city.  The visit was to be in 2 days.  I was out of town.  So, I went on the internet, got into our patient database, reviewed the patient’s medical records, typed a summary for the new physician (an old friend of mine as it turned out) , including pertinent laboratory test results and sent the information by e-mail to the physician and to the patient.  I also had my office fax copies of the medical records from my shadow chart.  Who wouldn’t love EHRs?

Now, it would have been even nicer if we had in place an integrated EHR (or PHR as it is usually called) so that the new physician could just tap into the database himself and get whatever information he needed, but what we have in place now is the next best thing.  The big problem at the moment with integrated PHRs is the issue of confidentiality; how does one prevent unauthorized access to patient health data?  Even within my institution there is concern about use of e-mails with patients as being “insecure” communications, which is a legitimate concern.

Yes, I truly love the electronic revolution with e-mails and EHRs except for one small thing.  I am still not sold on the idea of paperless offices and the use of computers WHILE interacting with patients.  It will take some doing to persuade me that shadow charts are not still useful.  I can’t actually remember when I last looked at a hospital chart, but I still rely on my shadow charts.  When I see a patient I want to talk to them, look them in the eyes, and not have my eyes focused on the computer.  I think my opposition to this new approach to patient care is legitimate if not less expensive for the institution (if one does not need to transcribe a note and if one doesn’t need to generate “paper,” it definitely saves money.  Maybe I’m just old fashioned?

I haven’t posted a medical whodunnit for a while and I’ve got a good one (at least I think it’s a good case).  The patient is a 7 year old male whose mother told a friend that her son, Jimmy had been growing very fast over the past 6-12 months.  Jimmy’s mother wasn’t sure if she should be concerned or if it was just one of those childhood “growth spurts.”  She took Jimmy to see his pediatrician and the physical examination showed that Jimmy had, in fact picked up his rate of growth and was now well above the 95% for height.   Since Jimmy’s mother and father are both tall (mother 68 inches tall and father 74 inches tall), the pediatrician reassured the parents that Jimmy’s growth spurt was of no concern.

Jimmy’s mother was not completely reassured by the pediatrician particularly since she had also noted some personality changes along with the increased growth, most notably much more aggressive behaviors.  The friend listened to Jimmy’s mother and suggested that, perhaps, a second opinion was in order, if only to allay the mother’s anxiety over the situation.

Is Jimmy’s mother’s anxiety justified?

The question is whether so-called “growth spurts” really do occur during childhood as part of the normal growth process.  The answer is that sustained major changes in growth velocity during childhood are not normal.  If one studies growth in children with careful height measurements every month for many years, there are definite month-to-month differences in rates, but they tend to average out over time.  One very important principle of growth is that children tend to follow whatever growth channel they are at all through childhood.  This means that a child who is at the 10% for height at age 2 years, is very likely to remain at that percentile throughout childhood, assuming the child is generally healthy; serious illnesses or other medical conditions can affect the growth rate.  There are  2 exceptions to the rule; the first is growth from birth until about age 18 months, and the other is growth during puberty.

A child who starts out in a higher height channel than the one he is genetically programmed to follow, typically follows the higher channel for about 6 months and then gradually falls and falls until about age 18 months when he  reaches the channel he will follow faithfully thereafter (by thereafter, I mean until the onset of puberty).  This growth pattern is called deceleration.  It can give doctors gray hair since the deceleration could be a normal physiologic growth pattern or one that indicates some medical disorder.

In a newborn who is programmed to follow a higher growth channel than the one at birth, the growth pattern is called acceleration; the infant picks up his linear growth rate almost immediately after birth  and attains the channel he will follow thereafter, by about one year of age.

Puberty is the second exception to the general rule that children stick to growth channels almost no matter what .  All bets are off as to the growth rate during puberty.  Typically, girls show pubertal growth acceleration about the time they start breast development (on average age 10.5-11 years) and are slowing down by the time they have their first menstrual period, about 2 years after starting breast development.  Boys typically show pubertal changes at about age 11.5-12 years but do not show much in the way of growth acceleration until 12.5-13 years and don’t slow down until about age 15-16 years.

Back to Jimmy

So, when Jimmy’s mother took him to see a pediatric endocrinologist (I am partial to pediatric endocrinologists but I might have recommended that Jimmy’s mother first make another appointment with the pediatrician to address  her continuing concerns).  After the pediatric endocrinologist obtained the medical history, which included old medical records with serial height measurements, he formulated a preliminary differential diagnosis.  Review of the old records showed clearly a rather impressive acceleration in linear growth as well as weight beginning about 18 months earlier.

Next step

So, how would the pediatric endocrinologist think about things so far?  Even before the physical examination, it is likely the “wheels are turning” and the physician is formulating a preliminary differential diagnosis that will help guide the physical examination.  Assuming the medical history is accurate (rapid growth, personality change), the differential diagnosis is not very difficult; very few conditions are associated with the historical information.  Rapid growth in children could be cause by improvement in a medical condition that was inhibiting growth such as celiac disease.  The history does not suggest such a possibility.  Another cause of rapid growth could be excess growth hormone.  Since there was no history of growth hormone injections or administration of any other drugs, the likely causes of growth hormone excess would be central nervous system tumors, particularly pituitary adenomas.  This is a rare cause of accelerated growth in children, but I have seen a few cases so it does occur.  Much more likely would be an excess of either male or female sex hormones.  The history of aggressive behavior would certainly fit with an excess of make sex hormones.  What disorders might cause excessive male or female sex hormones?  The possibilities include central (hypothalamic-pituitary origin) precocious puberty for whatever reason (e.g, a variety of central nervous system diseases, idiopathic central precocious puberty), or pubertal changes that are the result of non-central system conditions.  Examples would include a human chorionic gonadotropin-secreting tumor, possibly of the testis, autonomous overfunction of the testes (so-called “testitoxicosis) leading to precocious puberty, or the most likely possibility, a condition affecting the adrenal glands, either congenital adrenal hyperplasia or an adrenal tumor (adenoma or carcinoma).  That’s about it in terms of the possibilities.  The physical examination would help a great deal in “narrowing the field.”

The physical examination

The patient was quite cooperative.  Vital signs were normal.  His height and weight were greater than the 95% for age.  The general examination was normal for age except for the presence of mild facial acne and genital abnormalities.  The penis was clearly pubertal in size and the patient had pubic hair.  The testes were normally descended and were pre-pubertal in size.  Underarm sweating was present.

What do the physical examination findings mean?

The physical examination was clearly abnormal for a 7 year old boy; in a male, the earliest pubertal change is normally testicular enlargement at about age 11.5-12 years along with some underarm sweating and perhaps a bit of pubic hair.  By definition, pubertal changes in males are considered precocious if they begin before age 9-9.5 years of age.  So, Jimmy has precocious puberty and this is clearly the reason for the rapid growth.  Now the question is what has caused the precocious puberty?  There are many different ways of classifying precocious puberty.  I like to separate precocious puberty into 2 broad categories, true puberty and pseudo-puberty. I use the term “true puberty” to mean pubertal changes that are the result of pituitary hormones, FSH and LH stimulating the gonads to produce male sex hormones, principally testosterone in males, and estrogen in females.  If the puberty is caused byFSH and LH-like hormones (principally human chorionic gonadotropin or HCG)  that may or may not be coming from the pituitaryI would  still call it true puberty.  The other category, “pseudo-puberty”, refers to pubertal changes that are not caused by pituitary or pituitary-like hormone messengers to the gonads.  The pseudo-puberty could be either isosexual or heterosexual; in isosexual puberty the sexual changes are what one would expect given the person’s chromosomal make-up (i.e., breast development in a female) while in heterosexual puberty the sexual changes would be just the opposite (i.e.,breast enlargement in a male).  So, in Jimmy we havearly puberty which is clearly isosexual but pseudo-puberty.  We know that because the testes are pre-pubertal in size; if it had been true puberty, the testres would have been enlarged from pituitary or pituitary-like hormones with production of male sex hormones in the testes.

Where do we go from here?

So, Jimmy has precious puberty which is not the result of male sex hormones being produced by the testes.  In this situation the most likely possibility is that the male sex hormones are coming from one or both adrenal glands (it is pretty unlikely that Jimmy is taking anabolic steroids to improve his athletic performance).  The differential diagnosis is either an adrenal tumor, adenoma or carcinoma, both quite rare in children, or a disorder called congenital adrenal hyperplasia or CAH.  CAH is a group of genetic disorders that are the result of various blocks in the pathway to synthesis of the adrenal gland hormone cortisol,  and in some instances, also a block in the salt-retaining hormone, aldosterone.  There are 5 known different types of CAH, each caused by a deficiency in a specific enzyme necessary for cortisol synthesis.  The blocks can be complete or partial.  Each of the 5 types of CAH are quite distinct in the way they present.  The most common form of CAH is deficiency of an enzyme called 21-hydroxylase.  Patients with 21-hydroxlase deficiciency CAH produce large quantities of male sex hormones.  At any rate it is quite easy to diagnose the various forms of CAH and pin down the specific enzyme deficiency.  In fact, most states in the U.S., screen newborns for the 21-hydroxlase deficiency form of CAH.

So, armed with some knowledge about the various forms of precocious puberty, a medical history and a physical examination, the pediatric endocrinologist is ready to order a few laboratory studies.  I would be inclined to order the following tests: an X-ray of the left hand to determine Jimmy’s “bone age,” to get some idea of how advanced his bone growth centers were; both male and female sex hormones cause maturation of the bone growth centers which can greatly affect linear growth potential.  If for example, Jimmy’s bone age has already advanced to 12 or 13 years of age, his growth potential is much more limited than if his bone age were appropriate for age.  Thus, even though Jimmy might be tall for his age now, he might end up quite short.  I would order some hormone levels- testosterone, 17-hydroxyprogesterone, dehydroepiandrosterone (DHEA), and renin.  The results of these 3 tests would go a long way in helping the pediatric endocrinologist determine the exact cause of the precocious puberty.  One could order many more tests including MRIs and CAT scans (to look for tumors), but I would start simple and do a stage evaluation.

What did the laboratory studies show and what do the results mean?

The bone age was read by the radiologist as being 12 years.  This means that the radiologist looked at Jimmy’s left hand X-ray (by convention bone ages are always of the left hand) and compared the appearance of the bone growth centers to those in an atlas and found that Jimmy’s hand bone growth centers looked most like the 12 year old male standard photo in the atlas ,hich is just a series of hand X-rays taken at different ages (obviously, there are separate male and female atlas sections).  So, Jimmy has quite an advanced bone age and it has to be the result of excessive male sex hormones.  The blood studies showed elevated levels for the testosterone and the 17-hydroxprogesterone but not the other analytes.  This was actually all the pediatric endocrinologist needed to make a more-or-less definitive diagnosis.

The pre-hormone 17-hydroxprogesterone, is the product in the synthetic pathway for cortisol just before the step catalyzed by the enzyme 21-hydroxylase.  If the level of 21-hydroxylase is low, cortisol synthesis will slow up (or be completely blocked if there is no 21-hydroxlase present) and the pre-hormones before the block will pile up- just like water backing up where a dam is built.  As it turns out, the pre-hormones before the 17-hydroxprogesterone can follow an alterntive pathway and it shouldn’t surprise you that  they march down the pathway to make male sex hormones, testosterone and androstendione.   The DHEA was ordered because another form of CAH that can cause precocious puberty is the result of  a “back-up” at the step just after formation of DHEA.  One other form of  CAH causes precocious puberty, but in that disorder, patients usually have very high blood pressures, something Jimmy did not have.  Finally, the renin was ordered to see if along with a deficiency in cortisol synthesis, there was also a deficiency in the salt-retaining hormone, aldosterone which is found in about 70% of children with 21-hydroxylase deficiency.

So, Jimmy likely has CAH due to a deficiency in the enzyme, 21-hydroxylase which results in an excess of 17-hydroxprogesterone which in turn results in excess synthesis of male sex hormones.

Next step: treatment and confirmation of the diagnosis

The next step is to treat the patient with a glucocorticoid hormone such as cortisol which basically turns off the oversynthesis of male sex hormones.  If we obtain a blood specimen for 17-hydroxyprogesterone and testosterone several weeks after starting the treatment with cortisol, we can definitively confirm the diagnois of 21-hydroxlase deficiency CAH if the  17-hydroxprogesterone and testosterone levels have decreased.  This also means that the reason for the elevated testosterone cannot be an adrenal tumor since the tumor production of male sex hormones is not affected by treatment with cortisol- just think of how much money we saved by holding off on the MRI and CAT scan tests!

Lessons learned?

So, now we know what made Jimmy grow so fast and we know how to treat it.  Our goal is to treat him with enough cortisol to completely block  the excessive adrenal hormone production but not so much as to lead to side effects from overtreatment (this would be called Cushing’s syndrome).  With some luck, we have caught the problem early enough that it will not markedly decrease Jimmy’s growth potential.  One potential problem is that when the bone age gets to a pubertal level, that may trigger onset of true puberty.  But, we now have drugs that can slow that process if necessary.  The main lesson to be learned from this case is that physicians should not be so quick to assume that a particular physical finding or symptom in a patient is ok just because it may “run in the family.”  Tall stature in a child would not be surprising if the parents were tall but tall stature that does not “follow the rules” should raise red flags.  Similarly, just because a parent has a history of migraine heaaches does not mean that the child’s severe headaches are also migraines.

The other day, I was “on the road” at a motel and happened to read an article in USA Today entitled “Young adults’ health static: or even declining in areas” (USA Today, Thursday, February 19, 2009).  The article was written by Sharon Jayson and summarized some data on young adults in  the annual report from the National Center for Health Statistics (NCHS).  Every year  NCHS publishes an extensive survey of health-related issues.  For the first time, the report included a section of “young adults,” a group defined as people in the U.S., ages 18-29.  The lead author of the study was Amy Bernstein.

What do the data show?

The results are, perhaps, not entirely surprising, but they are very, very scary.  The report includes 50 million people so the data aren’t flawed by small numbers.  About two-thirds are overweight (fit into the overweight or obese categories based on BMIs); about one-third have no health insurance.   About 29% of men and 21% of women smoke cigarettes (smoking in women has decreased significantly over the past 10 years).  Among men, about 25% binge drink.  One of the study co-principal investigators, John Schulenberg, from the University of Michigan summed up the data pretty well when he said the following: “They’re still smoking, still drinking, still taking illicit drugs, and not exercising.  Whatever we’re doing, we’re not getting through to this particular age group.”

What do these data tell us?

In my opinion, these frightening data should tell us two things.  First, that  we should expect future health care costs related to “life-style” issues to remain very high for many years to come.  There is no reason to expect that when these young adults become mid-aged adults they will be healthier.  In fact, we should expect them to begin to show some of the consequences of their poor health behaviors such as heart disease, diabetes, and such.

The second thing these data tell us is that our current health care system has been incredibly ineffective in promoting healthy behaviors.  In my opinion, as we wrestle with how to reform our health care system, the discussions must include potential strategies to improve health behaviors.   I believe the most effective approach will be to develop comprehensive health education programs in the schools;, starting in kindergarten or even earlier; waiting until people are already overweight, smoking, drinking, and whatever, is too late; it’s almost always easier to prevent a problem than to treat it.  It’s much cheaper too!