The Genetics of Acromegaly and Gigantism

Photo: Courtesy of MedPage TodayA new NIH study in the New England Journal of Medicine says researchers from the National Institutes of Health have identified genetic mutations that cause acromegaly. The study also illuminates the role genes play in the childhood form, called gigantism. Read more from the article on GenomeWeb here. Read MedPageToday's take on it here.

Acromegaly Surgery: The Importance of Early Diagnosis and Surgical Skill

A new study that followed the health of acromegaly patients who had surgery at a hospital in Turkey over a 20 year period reported less-than-ideal results. The report concludes, "The rate of surgical success in our patients was found to be low. This could be explained by an absence of experienced pituitary surgical centers or surgeons in our region, and the fact that most patients presented late at the macroadenoma stage." To read more, click here.

Improving Quality of Life in Patients with Pituitary Tumours

Touch Endocrinology published an article about the Quality of Life for pituitary patients. We have included part of the information here, to read the full article click here

Improving Quality of Life in Patients with Pituitary Tumours

Iris Crespo, Alicia Santos, Eugenia Resmini, Elena Valassi, Maria Antonia Martínez-Momblán, Susan M Webb
US Endocrinology, 2014;10(1):79–83

Abstract: Evaluation of health-related quality of life (QoL) in people with pituitary tumours has received much attention over the last 10–15 years. Most of them show impaired QoL, but little is known about how to prevent impairment or how to improve QoL. Our aim is to review what is known about QoL in pituitary tumours patients and to highlight the areas worth improving, for the patient's well being. The article has four sections: acromegaly, Cushing's syndrome, prolactinomas and non-functioning adenomas. Control of comorbidities is usually an important factor to prevent QoL impairment; however, each disease has specific characteristics that should be properly addressed in order to obtain full patient recovery after successful therapy.

Endocrine Society Releases Clinical Practice Guideline for Acromegaly

Press Release issued by the Endocrine Society detailing their guidelines for treatment of acromegaly. Click here to go to original article. 

"Experts Recommend Tumor Removal as First-Line Treatment for Acromegaly"

Washington, DC—The Endocrine Society today issued a Clinical Practice Guideline (CPG) for the diagnosis and treatment of acromegaly, a rare condition caused by excess growth hormone in the blood.

The CPG, entitled "Acromegaly: An Endocrine Society Clinical Practice Guideline," appeared in the November 2014 issue of the Journal of Clinical Endocrinology and Metabolism (JCEM), a publication of the Endocrine Society.

Acromegaly after Traumatic Brain Injury

The Journal of Medical Case Reports recently published an article that found a high incidence of hyperpituitarism after traumatic brain injury.   It looks at a case report of a man whose acromegaly resolved itself after TBI but concludes that “there is no evidence of the presence of pituitary adenomas as a risk factor in otherwise healthy patients.”  To read original article, click here.

Acromegaly resolution after traumatic brain injury: a case report

Alejandro Cob 
•Correspondence: Alejandro Cob This email address is being protected from spambots. You need JavaScript enabled to view it. 
Author Affiliations
Journal of Medical Case Reports 2014, 8:290  doi:10.1186/1752-1947-8-290
Published: 2 September 2014 

Abstract (provisional)

Anterior hypopituitarism is a common complication of head trauma, with a prevalence of 30% to 70% among long-term survivors. This is a much higher frequency than previously thought and suggests that most cases of post-traumatic hypopituitarism remain undiagnosed and untreated. Symptoms of hypopituitarism are very unspecific and very similar to those in traumatic brain injury patients in general, which makes hypopituitarism difficult to diagnose. The factors that predict the likelihood of developing hypopituitarism following traumatic brain injury remain poorly understood. The incidence of a specific hormone deficiency is variable, with growth hormone deficiency reported in 18% to 23% of cases. 
Case presentation
A 23-year-old Hispanic man with a 2-year history of hypertension and diabetes presented with severe closed-head trauma producing diffuse axonal injury, subarachnoid hemorrhage and a brain concussion. A computed tomography scan showed a pituitary macroadenoma. The patient has clinical features of acromegaly and gigantism without other pituitary hyperfunctional manifestations or mass effect syndrome. A short-term post-traumatic laboratory test showed high levels of insulin like growth factor 1 and growth hormone, which are compatible with a growth hormone-producing pituitary tumor. At the third month post-trauma, the patient's levels of insulin like growth factor 1 had decreased to low normal levels, with basal low levels of growth hormone. A glucose tolerance test completely suppressed the growth hormone, which confirmed resolution of acromegaly. An insulin tolerance test showed lack of stimulation of growth hormone and cortisol, demonstrating hypopituitarism of both axes. 
Even though hypopituitarism is a frequent complication of traumatic brain injury, there are no reports in the literature, to the best of my knowledge, of patients with hyperfunctional pituitary adenomas, such as growth hormone-producing adenoma, that resolved after head trauma. A clear protocol has not yet been established to identify which patients should be screened for hypopituitarism. Predictive factors that might determine the likelihood of developing post-traumatic hypopituitarism have not been clearly established, but there is no evidence of the presence of pituitary adenomas as a risk factor in otherwise healthy patients. 
The complete article is available as a provisional PDF. The fully formatted PDF and HTML versions are in production.