Turner syndrome affects over 70,000 women in the United States. Turner syndrome is caused by loss genetic material from one X chromosome in a process that happens long before birth. Turner syndrome increases the risk of a variety of physical and medical changes such as shorter stature, subtle changes in facial structure, delayed puberty, congenital heart disease, and frequent ear infections. It has more recently been recognized that Turner syndrome also increases the risk of anxiety and depression. To better address the situation, Dr. Eirene Alexandrou recently developed an approach by which medical providers can screen persons with Turner syndrome using a simple questionnaire. She found that a high proportion, over half, of women with Turner syndrome had elevated anxiety levels. The results of Dr. Alexandrou’s study have been published this month in the journal “Hormone Research in Paediatrics” after peer review. The abstract of the work can be found on Pubmed (link). The results highlight the importance of multidisciplinary specialty clinics for persons with Turner syndrome, such as the clinic here led by Dr. Alexandrou and Dr. Pinnaro.
We are pleased to report that 6 of the pediatric endocrinology physicians in our division have received Patient Choice Awards. These awards are given out by UI Health Care to recognize physicians for consistently providing patients with an excellent healthcare experience. The recipient physicians were:
- Lauren Kanner
- Katie Larson Ode
- Liuska Pesce
- Catherina Pinnaro
- Mike Tansey
- Eva Tsalikian
The Award was given to only 156 providers across the entire institution. The Award recognizes those who scored in the top 10% nationally in response to patient surveys asking whether the physician showed concern for patient questions or worries, gave explanations about problem or condition, made efforts to include the patient in care decisions, discussed proposed treatments (options, risks, benefits, etc), and whether they would be likely to recommend the care provider to others. Our division is fortunate to have these Award winning physicians on our team. We thank each of them for their wonderful work. Find more about the awards at this link.
Infants, children and adolescents sometimes suffer from a wide range of thyroid disorders. Examples of thyroid conditions experienced by children include hypothyroidism (low thyroid hormone levels), hyperthyroidism (elevated thyroid hormone levels), goiter (enlarged thyroid), thyroid nodules (growths on the thyroid) and thyroid cancer. Pediatric endocrinologist Dr. Liuska Pesce has devoted her career to the treatment of children with these conditions. She has developed a national reputation as a caring and adept physician for pediatric thyroid care. To help develop even better treatments for thyroid conditions, she has now joined a collaborative effort of the leading pediatric thyroid groups across the country. The collaboration is called the Child and Adolescent Thyroid Consortium (CATC). The consortium has the goal of improving knowledge of thyroid disease and identifying ways to improve thyroid disease care for children and adolescents. The consortium member centers include the Children’s Hospital of Philadelphia, Boston Children’s Hospital, Yale University, MD Anderson, and the Hospital for Sick Children in Toronto, all leading institutions. Congratulations to Dr. Pesce for joining this rarefied group and we wish them success in their quest for better treatments.
Type 2 diabetes affects over 35 million Americans and is a leading cause of disability, expense, and mortality. Type 2 diabetes occurs worldwide and some countries have rates up to roughly three times higher than in the US. Type 2 diabetes rates are climbing, in part because there are not optimal therapies and preventative strategies. Dr. Norris has contributed to a team that has identified a novel molecular target to treat type 2 diabetes. The new findings have now been published in the scientific journal Nature Communications (link). The new target is a protein named SWELL1. It is a chloride transport protein and is involved in beta-cell and adipose tissue functions. Interestingly, certain small molecules that inhibit SWELL1 both improve insulin sensitivity and increase beta-cell function. This combination of effects potently improved blood sugar levels in mice, indicating that these types of SWELL1 inhibitors may be a very effective means to treat and/or prevent type 2 diabetes.
There are a number of reasons for growth failure in a child. There are a variety of genetic conditions that cause inherited forms of growth failure. One of these that is being increasingly recognized is aggrecan deficiency. This is a genetic condition that is passed from parent to child in a dominant pattern. To better understand aggrecan deficiency and its impact on growth and bone health, Dr. Eirene Alexandrou studied multliple families. She has now published her findings in the American Journal of Medical Genetics (PubMed link here). This work indicates that aggrecan deficiency is associated with moderate but progressive growth failure. Arthritis was very common among adults with aggrecan deficiency. With increased knowledge and awareness about this condition, the hope is to improve outcomes from earlier detection and treatment.
The Fraternal Order of Eagles Diabetes Research Center (FOE-DRC) is located at the University of Iowa. The FOE-DRC was created in 2008 when the Fraternal Order of Eagles pledged a $25 million gift toward diabetes research. Since then, the FOE-DRC (link to FOE-DRC homepage) has grown to include over 100 faculty researchers from across the University. Collectively, these faculty conduct over $30 million of NIH-funded research annually. Major innovations have included studies of mitochondrial function, muscle wasting in diabetes, heart dysfunction in diabetes, diabetes in cystic fibrosis, and use of electromagnetic fields to lower blood sugar. From 2013-2021, the Center was under the stellar leadership of Dr. Dale Abel, who now has been recruited to lead the Department of Internal Medicine at UCLA. While a new permanent FOE-DRC head is being recruited, Dr. Andrew Norris from our Division will serve as interim Co-Director of the FOE-DRC, alongside Dr. Kamal Rahmouni. From 2014-2021, Dr. Norris served as Associate Director of the FOE-DRC. Dr. Norris has been a diabetes researcher for over 2 decades, leading translational studies related to the integrated physiology of diabetes across the lifespan, with recent focus on cystic fibrosis related diabetes and early life determinants of diabetes risk.
Growth failure resulting in short stature has a variety of causes. One uncommon cause of short stature relates to mutations in the aggrecan gene. This conditions runs in families in an autosomal dominant pattern and causes severe short stature. Dr. Alexandrou is part of a team that now reports that growth hormone treatment can help improve improve the growth rate in children with this condition. She helped co-author their scientific report, which is being published in the prestigious Journal of Clinical Endocrinology and Metabolism (PubMed link to their publication). The publication reiterates the importance of having children who are growing poorly be evaluated by a pediatric endocrinologist to help determine the potential causes and to consider the relative merits of treatment.
Cystic fibrosis is an inherited disease that leads to progressive lung dysfunction. Persons with cystic fibrosis are also at high risk to develop diabetes. Unfortunately, cystic fibrosis plus diabetes is a dangerous combination, further worsening lung function and increasing risk of death. Recently, over the past decade, several new very effective medications for cystic fibrosis have been developed. Collective, these new medications are termed modulators. The modulators work by restoring function to the mutated proteins that cause cystic fibrosis. Thus, the specific modulator therapy used must be matched to the specific mutations that each person with cystic fibrosis has inherited. Although the modulators are very effective at improving lung function, their impact on diabetes risk for persons with cystic fibrosis is not yet clear. Dr. Larson Ode has co-authored a new, peer-reviewed article (PubMed link) summarizing current knowledge about how modulators might impact diabetes risk in persons with cystic fibrosis. The article highlights mechanisms and data suggesting that modulators might reduce risk of diabetes, but also notes potential mechanisms by which the modulators might increase diabetes risk.
It takes years of training to become a pediatric endocrinologist, requiring at least a decade of studies after college. You could consider this to be the equivalent of completing the “26th grade”. The final step is to pass the Pediatric Endocrinology board exam. We are pleased to report that the three newest doctors in our Division have just passed their Board Exam. Congratulations to Drs. Alexandrou, Pinnaro, & Ramakrishna for becoming Board Certified Pediatric Endocrinologists. Their years of hard work and study have enabled them to become well qualified to diagnose and treat pediatric endocrine conditions.
Dr. Catherina Pinnaro and her research team have just published a new report indicating benefits to reviewing diabetes device blood sugar data. The article is entitled “Diabetes Device Downloading: Benefits and Barriers Among Youth with Type 1 Diabetes”, and was just published as a peer reviewed research article in the Journal of Diabetes Science and Technology (pubmed Link; doi Link). Importantly, the data suggest that blood sugar levels improve when patients/families make insulin plan adjustments based on review of recent blood sugar patterns. Co-authors on the work from our division included Drs. Tansey, Tsalikian, and Norris. Also contributing as the lead author was future pediatric endocrinologist Dr. Benjamin Palmer.