Finding Modifier Genes in Turner Syndrome

Dr. Pinnaro

Turner syndrome (TS) is a karyotype disorder in which the sex chromosomes consist of an intact X chromosome and partial-to-complete loss of the other sex chromosome. TS includes a number of phenotypic features, including many that have variable expression. The degree of second sex chromosome loss explains the risk of some but not all TS features. Modifier genes are one possible explanation for TS features whose risk is not explained by karyotype. In this case, the modifier genes would be polymorphisms on autosomal chromosomes. This postulate served as the basis for a recent research study by Dr. Cat Pinnaro. Specifically, she sought to determine whether autosomal genes might influence the risk of cardiovascular malformations in TS. She focused on genes involved in pathways already known to impact cardiac development. The identified that specific variants in the CRELD1 gene were associated with risk of having a bicuspid aortic valve in TS. This study serves as proof-of-concept that modifier genes impact TS phenotype, and paves the way for future studies searching for additional modifier genes that might impact other aspects of phenotype in TS and other karyotype disorders. The work is published in the journal Human Genetics (pubmed link here).

Diabetes in Turner Syndrome

Although it has long been known that persons with Turner syndrome have increased risk of developing diabetes, the reasons are not well understood. Relatedly, there are no known preventative strategies and no directed therapies. Dr. Pinnaro and Dr. Alexandrou from our Division have teamed up to review published knowledge in this area and map out critical gaps in understanding. Their review, entitled “Hyperglycemia in Turner syndrome: Impact, mechanisms, and areas for future research” has just been published in the peer reviewed literature. Also contributing to the manuscript were student Cameron Mitsch and division member Dr. Norris. The paper appears in the journal Frontiers in Endocrinology and can be found here (doi: link or pubmed link ). Dr. Pinnaro is leading a team working to find the root causes of diabetes linked to Turner syndrome. It remains important for persons with Turner syndrome to receive expert endocrine care, such as can be obtained from Dr. Alexandrou; see this link for contact information for her Turner syndrome clinic .

Patient Choice Award Recipients

We are pleased to report that 6 of the pediatric endocrinology providers 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
  • Julie Osterhaus
  • Liuska Pesce
  • Catherina Pinnaro
  • Mike Tansey

The Award was given to only 174 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.

Diabetes Camp Herkto Hollow Reopens!

Some of the volunteer staff at Camp Herkto Hollow, Kids Week 2022, including those from our Division: Dr. Tansey (far left), Dr. Pinnaro (2nd from right), Dr. Parra Villasmil (far right).

Diabetes Camps are a summer highlight for many kids who have diabetes. Camp represents a chance to have non-stop outdoor fun, make new friends who understand what it is like to have diabetes and learn more about diabetes self-care, all while under the watchful eye of diabetes-knowledgeable camp counselors and staff. Several of the staff in our Division help support Camp Hertko Hollow (click for link), a diabetes camp in central Iowa with access to 400 acres of forest / outdoor recreation space. Dr. Pinnaro and Dr. Tansey serve to provide medical direction for the camp, and diabetes nurse Susan Huff has long volunteered to support the camp. Unfortunately, Camp Hertko Hollow, like most diabetes camps across the country, closed in 2020 and 2021 due to the COVID pandemic. This year, Drs. Pinnaro and Tansey were determined to help Camp Hertko Hollow reopen despite the challenges of ongoing COVID transmission. We are pleased to report that their efforts are paying off. Kids Week (ages 8-12) is off to a great start June 26-July 2, and Teen Week (ages 13-17) will run July 3-9. Also see the Camp website (link above) for details about Mini Camp and Family Camp opportunities. The doctors and nurses from our Division who have volunteered their time in camp this week and/or next week include: Dr. Pinnaro, Dr. Tansey, Dr. Parra Villasmil, Dr. Tuttle, Dr. Palmer, and nurse Sue Huff.

“Our first year back at camp Hertko has been a great one. I’m so grateful to our dedicated and flexible volunteers who adapted to swiftly to our Covid-related protocols.”

Dr. Catherina Pinnaro

Diabetes Research Training Program Receives Renewed Grant Support

Fraternal Order of Eagles Diabetes Research Center

There is a drastic need to devise better approaches to prevent, treat, and ultimately reverse diabetes. Essential to any progress is the constant training of skilled cohorts of research investigators. To this end, since 2017, the University of Iowa has nurtured a Diabetes Research Training Program. The Program supports mentored postdoctoral training focused on various diabetes research topics. Six postdoctoral trainees are supported at any given time, typically for two years each. To date, 19 postdoctoral trainees have been support by this Program, including pediatric endocrine faculty Dr. Pinnaro while she was a fellow. The Program was conceived by adult endocrinologist Dr. Dale Abel and pediatric endocrinologist Dr. Norris. Based on a proposal detailing their vision, they received a 5-year “T32” grant from the NIH to fund the program 2017-2022. During this time, the Program has been a resounding success, with most trainees having progressed onward in their research careers in academia or related private industry. Based on the strengths of the initial trainees, their research, and career progress, last year Drs. Norris and Abel wrote a renewed 5-year proposal for ongoing training. Today, we are pleased to announce that the proposal was viewed very favorably and that an additional 5 years of grant support will be provided by the NIH (you can view a summary of the grant at this link). Future or existing pediatric endocrine fellows who are interested a career focused on diabetes research can benefit from this program and are encouraged to contact Dr. Norris to discuss the application process.

University of Iowa F.O.E. Diabetes Research Center Featured in New Video

The Fraternal Order of Eagles Diabetes Research Center

Each June, the American Diabetes Association hosts its annual scientific meeting. This meeting is the world’s largest and most important gathering focused on diabetes research, attracting over 10,000 attendees who come from across the world to hear the latest cutting edge research. This year, the University of Iowa was featured in a short video film shown at the meeting. The video focused on how the Fraternal Order of Eagles Diabetes Research Center (FOE-DRC) is advancing diabetes research . The FOE-DRC was created in 2008 when the Fraternal Order of Eagles pledged $25 million to establish a diabetes research center at the University of Iowa. With this gift, the FOE-DRC has grown to include over 100 faculty researchers from across the University. Collectively, these faculty conduct over $30 million of NIH-funded research annually. Several members of our Division are faculty in the FOE-DRC: Drs. Curtis, Larson Ode, Norris, Pinnaro, Tansey, and Tsalikian. Earlier this year, the American Diabetes Association requested that investigators at the University of Iowa help create a short video highlighting the work of the FOE-DRC. The video is now available on youtube (link to video here). The video highlights work by two members of our Division: Dr. Larson Ode and Dr. Norris, as well as several colleagues in the Division of (Adult) Metabolism and Diabetes and in the FOE-DRC.

Patient Choice Award Recipients

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.

Drs. Alexandrou, Pinnaro, & Ramakrishna Pass Boards!

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.

Benefits of Home Review of Blood-sugar Data in Youth with Type 1 Diabetes

Dr. Catherina Pinnaro

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.

Celebrating 100 Years of Insulin Therapy

Before 1922 type 1 diabetes was a rapidly fatal disease. That changed in the span of a few history-changing months. In the summer of 1921 four scientists at the University of Toronto began studying how to extract insulin from the pancreas and made quick progress. The first injection occurred on January 11, 1922, when an experimental insulin extract was administered to an adolescent who was dying of type 1 diabetes, saving his life. Soon thereafter commercial insulin production began and insulin use became widespread. However, there were many shortcomings of early insulin therapy, which was “regular” insulin extracted from cow and pig pancreases. These insulin preparations did not work in a uniform way from person-to-person. Extreme blood sugar swings were common and complications abounded. Thankfully, in the intervening century numerous improvements to insulin preparations and insulin delivery have been made. Dr. Pinnaro and Dr. Tansey from our division have just published an overview of these improvements in the Journal of Diabetes Mellitus. Their review is entitled “The Evolution of Insulin Administration in Type 1 Diabetes” (click on title for link to the article). Despite these improvements, insulin delivery for patients with type 1 diabetes remains imperfect. Importantly to this end, the article also discusses anticipated improvements that may help future generations of persons with type 1 diabetes. We are thankful for all those who worked to discover and improve insulin therapy, and look forward to future improvements! We thus thank all the diabetes research teams who are working tirelessly to improve diabetes care. This includes the Pediatric Diabetes research team here at the University of Iowa, whose dedication and expertise has helped advance diabetes care through carefully run studies. Finally, to those youth and families affected by type 1 diabetes, know that we look forward to every opportunity to work with you to optimize your insulin delivery and diabetes care. Advances in insulin therapy are happening rapidly. If your diabetes control is not what you think it should be, we would love for you to reach out to us to discuss options.