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Better Understanding of a Uncommon Form of Turner Syndrome

Dr. Catherina Pinnaro

Turner syndrome is a genetic condition cause by complete or partial loss of an X chromosome in a person who otherwise would have an XX karyotype. There are multiple ways in which the X chromosome can be missing or partially lost. Sometimes, a person with Turner syndrome will have a mixture of cells in their body. An uncommon form of Turner syndrome occurs when some cells are have only one X chromosome (45,X karyotype) and other cells have three X chromosomes – termed 45,X/47,XXX mosaicism. The health implications of this form of Turner syndrome have not been well studied until now. A group of Turner syndrome experts across the United States, including our own Dr. Pinnaro, have cooperated to combine their experiences. Their findings are now published in the American Journal of Medical Genetics (PubMed link). They found that features of this form of Turner syndrome could be more subtle than more common forms. Because Turner syndrome can cause a wide variety of rare but serious health concerns, it is important for persons with Turner syndrome to receive medical care in a specialized clinic, such as the one staffed at our center by Dr. Pinnaro and Dr. Alexandrou.

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Dr. Pinnaro Recognized for her Outstanding Teaching

Dr. Catherina Pinnaro

On May 31st, Dr. Pinnaro received the Excellence in Clinical Coaching award from the Graduate Medical Education office. This award is given to faculty who are distinguished as outstanding clinical teachers of resident and fellow physicians. Comments written about Dr. Pinnaro’s teaching include a reflection of her approach to hospital rounds where she is renowned for “probing each learner with thought-provoking questions to assess their understanding, empowering the learners to take ownership of the patients, and dropping clinical pearls about even the mundane patient.” Congratulations Dr. Pinnaro, and thank you for your outstanding clinical teaching efforts.

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Drs. Curtis and Pinnaro Provide Invited Commentary on Pubertal Timing

A variety of pathological processes can induce puberty earlier than otherwise would normally occur. When a child enters puberty, an important question is whether the timing is abnormally early. Pediatric endocrinologists are often the arbitrators of this question. Data defining the normal ages of puberty start are thus important. Data suggests that normal timing varies depending on a child’s genetic, racial, and ethnic background. A recent publication in JAMA Network Open reports data collected from over 100,000 youth with Asian American, Native Hawaiian, and/or Pacific Islander heritage (link to article). To help interpret the findings, Drs. Vanessa Curtis and Catherina Pinnaro from our division were asked to provide their commentary on the article. Their commentary can be found here (link, which has link to the open source full text). They conclude that “[the] study illustrates the diversity within populations that could easily and erroneously be grouped together and emphasizes the necessity for precision and the pitfalls encountered when using race and ethnicity as a proxy for genetic background.”

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JDRF Diabetes Fundraising Walk

The JDRF is a philanthropic, nonprofit organization that raises funds to support research aimed at curing, preventing, and better treating type 1 diabetes. On Saturday, May 11, the JDRF held its annual fundraising walk in Cedar Rapids. Our Division, led by Drs. Pinnaro and Alexandrou, organized a team of walkers to help the cause. Walkers from our division on the team included Drs. Alexandrou and Pinnaro, nurse practitioner Alex, diabetes nurses Haylee and Sue, pharmacist Lisa, our administrator Teresa, and research coordinator Emma, as well as spouses, kids, and a few of our dogs! As an unexpected perk, team members got to meet Iowa basketball star forward Hannah Stuelke (pictured below with nurse Sue and Dr. Alexandrou).

L->R: diabetes nurse Sue, Iowa basketball star Hannah Stuelke, Dr. Alexandrou.
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Our Division’s Scholarship Well Represented at National Pediatric Endocrine Society Meeting

Dr. Eirene Alexandrou
Dr. Palmer
Dr. Catherina Pinnaro
Dr. Akhila Ramakrishna

Each year, pediatric endocrinologists from around the world attend the “PES Annual Meeting”, hosted by the Pediatric Endocrine Society (PES). The mission of the PES is primarily to “advance and promote the endocrine health and well being of children and adolescents“.  This year, several Division members submitted abstracts describing new research and advances for review by the PES. The following were selected for presentation at this years PES meeting, which was just held May 2-5 in Chicago.

  • Dr. Eirene Alexandrou: “Gonadotropin-Releasing Hormone Agonist Therapy in Patients Undergoing Dialysis – A Cautionary Tale!” – selected for a poster presentation. Co-author from our division on this work is Dr. Akhila Ramakrishna.
  • Dr. Ben Palmer: “Adolescent-driven Retrospective Glucose Data Self-Review is Associated with Improved Glycemic Control in Type 1 Diabetes Mellitus.” – selected for a poster presentation. Co-authors from our division on this work are Dr. Catherina Pinnaro, Dr, Andrew Norris, and Dr. Michael Tansey.
  • Dr. Catherina Pinnaro: “Influence of X Chromosome Parent-of-origin on Glycemia in Individuals with Turner syndrome” – selected for an prestigious oral presentation. Co-author from our division on this work is Dr. Andrew Norris.
  • Dr. Akhila Ramakrishna: “A rare case of a female with 47 XXY ovo-testicular DSD.” – selected for an prestigious oral presentation.

Congratulations to all for helping advance the field of Pediatric Endocrinology.

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“Forty Under 40”: Dr. Pinnaro Recognized for her Regional Impact

Dr. Catherina Pinnaro

We are delighted to report that Dr. Pinnaro from our division has been recognized by the Corridor Business Journal for her significant impact on her community and business. The award is reserved for early career impact, with a criteria that the person be under age 40. Forty individuals in the Cedar Rapids / Iowa City corridor region are selected annually. Dr. Pinnaro is a physician scientist, dividing her professional time between taking care of patients and directing a research program aimed at better understand health and disease. Her clinical work is focused on caring for pediatric patients with diabetes or other endocrine disorders. Her research program is focused on better understanding diabetes in persons with Turner syndrome and honing technology-based treatments for diabetes. In describing her approach to medicine and research, she relates that “I am motivated by trying to solve dynamic problems that may need out-of-the-box strategies.” She and the other recipients were recognized at an awards dinner on October 19th. We are fortunate to have Dr. Pinnaro on our team and congratulate her for her achievement.

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A New Registry to Inform Healthcare for Turner Syndrome

Dr. Catherina Pinnaro

Dr. Pinnaro is part of the leadership team that has created a new national registry to track the health of persons with Turner syndrome. The initiative has been named the “Inspiring New Science to Guide Healthcare in Turner Syndrome (InsighTS)” Registry. The leadership group of the InsighTS Registry has now published their study’s design and goals. The publication’s abstract can be found on PubMed at the following link. Persons with Turner syndrome have unique health risks, and ideally should be seen regularly in a clinic with Turner syndrome expertise, such as the one at the University of Iowa Stead Family Children’s Hospital (2023 link to the Turner syndrome clinic) headed by Dr. Alexandrou and Dr. Pinnaro.

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Screening for Diabetes in Persons with Turner Syndrome

Dr. Pinnaro
Dr. Parra Villasmil
Dr. Norris

Persons with Turner syndrome are at higher risk than normal to develop diabetes. It would be ideal to screen for diabetes to allow treatment early in the disease process. The natural history of diabetes in persons with Turner syndrome is not well understood. Likewise, the optimal screening approach is not known. To help address this knowledge gap, Dr. Pinnaro from our division led a team that compared results between multiple types of screening tests for diabetes assessed concurrently in persons with Turner syndrome. The screening tests compared were fasting plasma glucose, oral glucose tolerance test, and hemoglobin A1c. The results showed only partial concordance between the different tests. Interpreted conservatively, the data suggest that various hemoglobin A1c thresholds could be used to indicate need for closer evaluation for diabetes. The results are published in the journal Hormone Research in Paediatrics as an article entitled “Screening for Turner syndrome-associated hyperglycemia: Evaluating hemoglobin A1c and fasting blood glucose”. Study authors from our division were Drs. Pinnaro, Parra Villasmil, and Norris. The article’s Pubmed abstract can be found at this link.

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Normal SARS-CoV-2 Immunity in Children with Type 1 Diabetes, Including after Vaccination

Dr. Pinnaro
Dr. Tansey
Dr. Norris

Persons with diabetes can have weakened immune systems that are unable to fight off infections. Vaccination response depends on the immune system creating protective immunity after exposure to an antigen. Indeed, under some circumstances persons with diabetes fail to develop immunity after vaccination. Most data to date however have focused on adults. In particular, no studies have examined the response of children with diabetes to COVID vaccination. In a collaboration between the Microbiology Department, our Division set out to address this knowledge gap. Both antibody levels and cellular immunity against the COVID virus were compared between children with and without type 1 diabetes. The levels were also compared between the children that had versus had-not received COVID booster vaccination. Importantly, the children with diabetes exhibited normal levels of immunity that matched those of children without diabetes. This result shows that children with diabetes have normal immune responses, at least as regards protection against COVID, including before and after booster vaccination. Surprisingly, COVID booster vaccination did not statistically raise immunity against the Omicron COVID variant in either group of children. One possible reason for this may have been that the children groups appeared to already have a degree of immunity against Omicron even without booster vaccination, though the study was not designed to properly address this possibility. By contrast, adults were also studied and experienced a robust enhancement of immunity in response to booster vaccination. Members of our Division who helped create and conduct the study were Drs. Pinnaro, Tansey, and Norris, as well as research manager Shannon Christensen. The publication can be found at this Pubmed link. The authors wish to thank the children and families who volunteered for the study.

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Dr. Pinnaro Receives NIH K23 Research Grant

Dr. Catherina Pinnaro

As a budding physician scientist, Dr. Cat Pinnaro is studying how persons with Turner syndrome (TS) are impacted by diabetes. Persons with TS have increased risk of developing diabetes. Diabetes then negatively impacts their health, perhaps more so than for the general population. The mechanisms by which diabetes develops in those with TS have not been well studied, and thus preventative strategies are lacking. Dr. Pinnaro is working to address these shortcomings by creating new clinical studies of blood sugar metabolism in persons with TS. To further her research endeavors, she applied for and just received a prestigious NIH K23 Career Development Award. Her proposal is entitled “Hyperglycemia in Turner syndrome: Mechanisms and X chromosome contributions“. Congratulations Dr. Pinnaro!