Endocrinology Network Editorial Staff 

A 6-year-old girl was brought to her pediatrician for vaginal bleeding. Her parents noticed a recent enlargement of her breast tissue and were concerned that she might be experiencing very early onset of puberty. She also had a number of brown, hyperpigmented cafÃ©-au-lait patches on her cheeks, back, and trunk. The girl had always been noticeably different from her peers and they thought this change might lead to teasing at school.

A. Neurofibromatosis
	B. McCune-Albright syndrome
	C. Functional ovarian tumor
	D. Cushing syndrome

The correct answer is B) McCune-Albright syndrome.

McCune-Albright syndrome, also known as Albright syndrome, consists of polyostotic fibrous dysplasia, cafÃ©-au-lait spots, and gonadotropin independent precocious puberty. Affected individuals may have other endocrine abnormalities. Fibrous dysplasia can involve any bone but usually affects the long bones, pelvis, and scapula. Sclerosis of the base of the skull is also common. Fibrous dysplasia ranges from asymptomatic and detectable only by bone scan, to markedly disfiguring with development of pathologic fractures or nerve impingement.

The abnormality in McCune-Albright syndrome is a sporadic post-zygotic mutation in the gene coding for the alpha subunit of the stimulatory G protein resulting in mosaicism of the mutation in affected tissues.

For more information about this diagnosis, including ICD 10 codes, visit 

Articles

A 6-year-old girl was brought to her pediatrician for vaginal bleeding, breast enlargement, brown patches on her cheeks, back, and trunk. Can you diagnose this patient?

Image IQ:  A 6-year-old girl with brown patches on her trunk

this month report that empagliflozin, a sodium–glucose cotransporter 2 inhibitor (SGLT2), successfully reduced liver fat content in recent-onset and metabolically well-controlled type 2 diabetes (T2D).

This could be good news for diabetes patients who develop nonalcoholic fatty liver disease, which is associated with cardiovascular disease, chronic kidney disease, retinopathy, steatosis, fibrosis, and cirrhosis. While weight loss can effectively address nonalcoholic fatty liver disease, it can be difficult to achieve. Currently, the condition is treated with glucagon-like peptide 1 receptor agonists, thiazolidinediones and novel therapies, such as, pegbelfermin and elafibranor, but to date, there is no one accepted treatment for nonalcoholic fatty liver disease.

SGLT2 inhibitors like empagliflozin improve glycemia by increasing urinary glucose excretion, but also reducing body weight and blood pressure leading to improved cardiovascular and renal function.

RELATED:  Click here for the results of an earlier study on empagliflozin

This study, by Michael Roden, M.D. of Leibniz Institute for Diabetes Research at Heinrich-Heine University in Germany, included 84 patieints with type 2 diabetes of approximately three years. They were randomly assigned to a 24-week treatment course of 25 mg daily empagliflozin or placebo.

There was 2.3-fold greater reduction in liver fat from baseline to 24 weeks for patients treated with empagliflozin.

There were no differences between the two groups in adipose tissue insulin resistance and insulin-stimulated free fatty acids suppression at low- and high-insulin conditions.

The primary end point was the difference of the change in liver fat content from baseline to 24 weeks. Tissue-specific insulin sensitivity was the secondary outcome.

Researchers also found that empagliflozin also decreased uric acid levels and adiponectin levels even without a change in insulin sensitivity.

"Because future nonalcoholic fatty liver disease treatment in T2D will require strategies that simultaneously address the different mechanisms underlying metabolic liver disease, EMPA could serve as a partner for such combination treatments because of its favorable effects on liver fat and body weight," the authors wrote.

Sabine Kahl, Sofiya Gancheva, Klaus StraÃburger, et al. 

"Empagliflozin Effectively Lowers Liver Fat Content in Well-Controlled Type 2 Diabetes: A Randomized, Double-Blind, Phase 4, Placebo-Controlled Trial."

 February 2020. https://doi.org/10.2337/dc19-0641
	 

Researchers writing in Diabetes Care this month report that empagliflozin, a sodium–glucose cotransporter 2 inhibitor (SGLT2), successfully reduced liver fat content in recent-onset and metabolically well-controlled type 2 diabetes (T2D).

Empagliflozin Reduces Liver Fat in Early Diabetes

Leading experts on nutrition and diabetes are recommending that patients still continue to follow current nutritional recommendations by the American Diabetes Association and other healthcare and governmental organizations that recommend consuming a diet rich in fruits and vegetables, while limiting red and processed meats.

The group, led by Frank B. Hu, M.D., Ph.D., of the Harvard T.H. Chan School of Public Health, outlined these recommendations in a newly published article in

published in November that suggests restricting red meat from diets may have no effect on cardiometabolic outcomes and cancer incidence/mortality.

The study, by the research nutrition group NutriRecs and published in November in the 

has a number of significant flaws, Dr. Hu and colleagues found. While NutriRecs stated there is "low certainty" of evidence linking red meat consumption to adverse health outcomes, Dr. Hu and colleagues cited numerous studies that highlight poor outcomes.

"The 'dietary guideline recommendations' by the NutriRecs consortium suffer from multiple methodological limitations and involve misinterpretations of nutritional evidence. These recommendations are not justified by current evidence and have led to considerable confusion among health professionals and the general public," Hu et al. wrote. "These recommendations are not justified, in large part because of the flawed methodologies used to review and grade nutritional evidence. Based on the cumulative evidence, the majority of existing dietary guidelines, including the Dietary Guidelines for Americans 2015–2020, recommend dietary patterns relatively low in red and processed meats and high in minimally processed plant foods. Similarly, a consensus report of the American Diabetes Association recommends multiple dietary patterns for preventing and managing T2D, most of which emphasize modest or no consumption of red or processed meats."

 reported that the authors of the NutriRecs report failed to disclose associations with the meat industry.


	Frank Qian, Matthew C. Riddle, Judith Wylie-Rosett and Frank B. Hu.

 "Red and Processed Meats and Health Risks: How Strong Is the Evidence?"

. February 2020. https://doi.org/10.2337/dci19-0063
	 

No Pass for Red Meat Report

The U.S. Food and Drug Administration has 

 (Tepezza, Horizon Therapeutics) for the treatment of adults with thyroid eye disease, a rare condition where the muscles and fatty tissues behind the eye become inflamed, causing the eyes to be pushed forward and bulge outwards (proptosis). The drug approval, which was announced yesterday, represents the first drug approved for the treatment of thyroid eye disease. 

“Today’s approval marks an important milestone for the treatment of thyroid eye disease. Currently, there are very limited treatment options for this potentially debilitating disease. This treatment has the potential to alter the course of the disease, potentially sparing patients from needing multiple invasive surgeries by providing an alternative, non surgical treatment option,” said Wiley Chambers, M.D., deputy director of the division of transplant and ophthalmology products in the FDA’s Center for Drug Evaluation and Research. “Additionally, thyroid eye disease is a rare disease that impacts a small percentage of the population, and for a variety of reasons, treatments for rare diseases are often unavailable. This approval represents important progress in the approval of effective treatments for rare diseases, such as thyroid eye disease.”

Tepezza was approved based on the results of two studies  consisting of a total of 170 patients with active thyroid eye disease who were randomized to either receive Tepezza or a placebo. In the treatment group, 71 percent in the first study and 83 percent in the second study demonstrated a greater than 2 millimeter reduction in proptosis (eye protrusion) as compared to 20 percent and 10 percent of subjects who received placebo, respectively.

The FDA granted this application Priority Review, in addition to Fast Track and Breakthrough Therapy Designation. Additionally, Tepezza received Orphan Drug designation.

The FDA announced yesterday that it has approved the first treatment for thyroid eye disease:  teprotumumab-trbw (Tepezza, Horizon Therapeutics).

Endocrinology Network Editorial Staff

Articles

Image IQ: A 6-year-old girl with brown patches on her trunk

Empagliflozin Reduces Liver Fat in Early Diabetes

No Pass for Red Meat Report

First Treatment for Thyroid Eye Disease Approved by FDA