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From AutismOne

Autism & Growth Hormone… Is there a connection?

Karen Lynn Porte, MD, F.A.C.E -

“It has been my privilege to study a series of 7 children with a spectrum of autistic features as defined by classic DSM-IV criteria (5 with Autism and 2 with Asperger’s) Although none of the children involved manifested the expected findings of short stature and delayed bone growth, each one of them was documented to have severe hypo-secretory levels of growth hormone with corresponding low IGF-1 levels following the controlled infusion of a provocative stimulus in the form of Arginine. In six of the index cases, the seventh who has not yet begun therapy, all have demonstrated a dramatic and favorable response to the exogenous administration of growth hormone (Nutropin AQ â Genentech), and in most cases, thyroid supplementation as well. The majority of the children specified began to manifest demonstrable improvement following two to four months of hormone replacement therapy. Most gratifying of all, has been the noticeable advancement in communication skills, socialization and academic performance.

Dr. Karen Porte is a Chicago native. She attended college at the University of Illinois, Urbana-Champaign, where she graduated with a B.S. in Biology at the age of 19. She went on to attend Medical School at Loyola-Stritch School of Medicine in Maywood, Illinois. There, she earned a Doctor of Medicine degree after which she performed an Internship and Residency in Internal Medicine, also at Loyola. Finally, Dr. Porte went on for a Fellowship in Endocrinology and Metabolism. At present, she is in private practice in Joplin, Missouri, where she has cultivated an interest in issues related to pituitary dysfunction. Anecdotally, Dr. Porte has noticed a connection between autism and its’ spectrum of disorders, with brain/hormonal abnormalities including growth hormone deficiency. She is here to present her promising information to us.

It is a question as old as life itself, the conundrum of nature versus nurture. Within the last forty years, the identified incidence of neurodevelopment disorders in the spectrum ranging from autism, with its’ myriad of presentations, to OCD, BDD, and ADHD have skyrocketed. Arguably, given the major advancements in perinatal care and the emergence of Neonatology, such may have impacted the latter. Yet, the developments cited in no way explain the fact that the defined disorders have risen in frequency from an estimated 1:10,000 in the mid 1940’s, to 1:2,500 in the mid 1980’s, to the current incidence of 1:150 by today’s standards. Curiously, the aforementioned developmental variants have demonstrated an abnormal gender predisposition with a reported male to female incidence approximating 4:1 in most reputable studies. These same investigations have demonstrated that the quoted escalation of incidence cannot be explained merely by changes in the diagnostic criteria, population migration or other readily identifiable factors.

With the passage of time, concerns have arisen regarding potential environmental issues which may correlate to the epidemic spread of these maladies which currently and conservatively, affect greater than 6 million of our nation’s children. Parenthetically, it would appear that environmental toxins such as ethanol, aluminum, mercury and thimerosal exposure may provide such a linkage.

Anecdotally, there have been numerous reports of alternative medical therapies which have demonstrated proven benefit in treating some of these conditions. Rimland has advocated the addition of pyridine and magnesium supplementation. Megson discovered that some autistic children have favorably responded to high doses of Vitamin A, theorizing that some forms of autism may be linked to the disruption of the G-alpha protein, affecting retinoid receptors on the brain. The pertussis toxin component found in the D.P.T. vaccine, in genetically predisposed children was found to separate the G-alpha protein from its retinoid receptors.

In January 2004, Drs Waly and Deth published a landmark paper which, for the first time, outlined a novel growth factor signaling pathway which regulates methionine synthase activity and thereby modulates methylation reactions, including those affecting DNA. It has been theorized that the potent inhibition of this pathway by ethanol, trace metals and thimerosal may represent an important target for neuro-developmental toxins. Supplementation of this defective pathway with dimethylglycine, methylcobalarmin, zinc, pyridoxine and magnesium would be expected to produce the clinical benefits described by Rimland and researchers.

Independently, as a private practitioner and researcher in both adult and childhood growth hormone deficiencies, I have discovered an interesting and potentially therapeutic association between autism and hypothalamic/pituitary dysfunction, particularly relating to a relative disruption of the growth hormone pathway.

It is important to understand that the very name, Growth Hormone, is extraordinarily misleading. Contrary to the widely held conception that this hormone only modulates growth of the axial skeleton such couldn’t be any further from its true function. We are only just beginning to unravel the complex multi-system regulation which growth hormone modulates. In fact, skeletal growth is relatively minor component of the multiple roles of which growth hormone ultimately affects. In fact, no matter what our age, it is the vital presence and function of growth hormone which governs numerous and essential neuro-hormonal and biochemical effects on the body.

For instance, growth hormone ultimately influences activities related to body composition, cholesterol metabolism, bone integrity, cognitive performance, immune modulation and cardiovascular/pulmonary physiology. It is the vital importance of growth hormone and its related compounds to provide a fine tuning regulatory system, serving to coordinate the momentary adjustments within the native complexities of the human body. It naturally follows that any abnormality which interrupts the intricately mechanized communication, production and release of various neurotransmitters may alter the fundamental control of the hypothalamic pituitary axis, thereby resulting in significant long term morbidity and mortality.

Regrettably, most researchers have focused their attention upon growth hormone’s ability to favorably impact upon ones body composition. Initial studies as preformed by Papadokis in 1996 demonstrated an improvement in the body composition of elderly men treated for a duration of 6 months. It is unfortunate to report that corresponding improvements in their functional capacity (strength, endurance, mental status and mood) could not be absolutely qualified. Since then, sales of alleged growth hormone promoting agents, dubbed the proverbial foundation of youth, have skyrocketed, few with any documented beneficial effect above and beyond the financial enhancement of those who promote such agents.

Ragusa was among the first to describe a potential connection between growth hormone deficiency and autism in 1991. Other investigators have anecdotally reported that autistic children often manifest low IGF-1 levels, and may further respond to the supplemental utilization of thyroid replacement or cortisone. Within my personal experience, it has been my observation that children with Autism, Asperger’s, OCD and ADHD appear to manifest a unifying abnormality, that of pituitary dysfunction, including growth hormone deficiency. Theoretically, the latter concept has merit noting that under the very best or circumstances, the human brain and nervous system are only rudimentarily developed even within a full term pregnancy.

It has been my privilege to study a series of 7 children with a spectrum of autistic features as defined by classic DSM-IV criteria (5 with Autism and 2 with Aspberger’s) Although none of the children involved manifested the expected findings of short stature and delayed bone growth, each one of them was documented to have severe hypo-secretory levels of growth hormone with corresponding low IGF-1 levels following the controlled infusion of a provocative stimulus in the form of Arginine. In six of the index cases, the seventh who has not yet begun therapy, all have demonstrated a dramatic and favorable response to the exogenous administration of growth hormone (Nutropin AQ â Genentech), and in most cases, thyroid supplementation as well. The majority of the children specified began to manifest demonstrable improvement following two to four months of hormone replacement therapy. Most gratifying of all, has been the noticeable advancement in communication skills, socialization and academic performance.

It is critical importance to understand that the Endocrine system is the universal link which permits one organ to communicate with another, thereby uniting the human body into an integrated whole. Although standard practice has tended to define physiology from the viewpoint of single organ analysis, one cannot escape the inevitable conclusion that neurotransmitters and their hormonal regulation are the slender threads which interwoven define the fabric of life itself. As such, should any of the threads, the individual organs, become disrupted or dysfunctional, the overall effect must be global in its presentation. One must appreciate that the exact same neurotransmitters which govern the complexities of our thoughts, insights, emotions and powers of reasoning, are the very same chemicals which modulate the entire Endocrine system.

At the end of the day, as we stand upon the threshold of linking alternative therapies to their documented biochemical mechanisms of action, we are begging to comprehend the complex interaction between aberrant behaviors, neuro-biochemical variance and the intimate workings of the hypothalamic pituitary axis. With this new insight in mind, it is hoped that we may finally unlock the mysteries of autism and provide new hope to the millions of children and adults who have suffered the ravages of their illness for far too long.