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Expert Advice on Providing Estrogen Replacement Therapy for those with Turner Syndrome

Dr. Eirene Alexandrou

The majority of women with Turner syndrome experience primary ovarian failure, meaning that their ovaries never produce estrogen in normal quantities. For this reason, normal puberty does not occur. Estrogen production is not only important for a feminizing puberty to occur but also is important for overall health and wellness. Dr. Eirene Alexandrou heads the Turner syndrome clinic (clinic homepage link) at the University of Iowa Stead Family Children’s Hospital. She is a published expert in Turner syndrome care. Recently, on April 4, Dr. Alexandrou gave an invited webinar entitled “Estrogen Replacement Therapy in Turner Syndrome” (announcement link) for the Turner Syndrome Foundation. She reviewed the prevalence of primary ovarian failure in Turner syndrome, the benefits of estrogen replacement therapy, and the timing of such replacement including initiation.

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Advancing Reproductive Health of Youth

The North American Society for Pediatric and Adolescent Gynecology (NASPAG) is a non-profit association dedicated to advancing gynecologic care for youth. NASPAG held its 37th annual clinical & research meeting March 24-26 this year in Nashville. Dr. Kanner from our division was one of the Planning Committee members directing the meeting. Fellow Dr. Parra Villasmil from our division also attending the meeting and presented a Roundtable lecture. We thank them for their efforts to improve health.

Dr. Parra Villasmil leading a Roundtable at NASPAG 2023.
Dr. Kanner speaking at NASPAG 2023.
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Impact of Highly Effective Modulator Therapy for Cystic Fibrosis on Body Composition

Dr. Larson Ode

The triple combination therapy consisting of elexacaftor/tezacaftor/ivacaftor (ETI) has made a tremendous impact for the health of persons with one of the most serious and most common genetic forms of cystic fibrosis. This medication dramatically improves lung health and helps persons with CF live a longer and healthier life. These medications also help persons with CF regain weight, which is important for health because being underweight in those with CF is associated with a higher risk of worsening lung disease and mortality. However, what is not yet known is whether the weight gain with ETI therapy is healthy weight gain such as muscle mass or less health gain such as excess adipose tissue. To address this knowledge gap, Dr. Katie Larson Ode from our division teamed with a group of investigators at several other hospitals across the country to study this in persons on ETI therapy. They found, perhaps concerningly, that the weight gain occurred mainly as increased fat mass and that the changes were associated with reduced insulin sensitivity. These results indicate a need to closely monitor and further study the metabolic impact of ETI therapy. Their study has been published in the journal Pediatric Pulmonology and is titled “The Impact of elexacaftor/tezacaftor/ivacaftor on Body Composition in a Small Cohort of Youth with Cystic Fibrosis”. It can be found at this pubmed link.

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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).

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Dr. Tuttle Receives International Interest for His New Approach to Teach Physicians How to Manage Diabetes in Hospitalized Patients

The 11th International Meeting of Pediatric Endocrinology was held March 4-7 2023 in Buenos Aires, Argentina. This meeting allows pediatric endocrinology physicians from around the world opportunity to share their experiences, advances and best practices. This year the meeting was attended by over 1200 pediatric endocrinologists. Dr. Tuttle, a 3rd year pediatric endocrinology fellow in our division, presented his fellowship scholarly project at the meeting. He has created an interactive e-Book designed to more effectively teach pediatric resident physicians how to manage diabetes in hospitalized patients. Diabetes is difficult to manage, especially during illness and hospitalization. Mismanagement can lead to excessive hyperglycemia, elevated ketones, and/or hypoglycemia. Efficiently and effectively teaching learning physicians the complexities of management is challenging. Dr. Tuttle has met this challenge by creating new teaching approaches and materials and is currently working to optimize these new tools. An abstract of his poster presentation can be found here (link – note: this content may not be freely available at this external website).

Dr. Tuttle attends his poster at the 2023 International Meeting of Pediatric Endocrinology in Buenos Aires, Argentina .
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Diabetes in Turner Syndrome

Dr. Catherina Pinnaro
Dr. Eirene Alexandrou

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 .

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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.

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Turner Syndrome Clinic Opens

Dr. Eirene Alexandrou
Dr. Catherina Pinnaro

Teaming up, Dr. Alexandrou and Dr. Pinnaro from our division have worked hard to create the first dedicated clinic in the region for persons with Turner syndrome (TS). TS is a genetic condition that occurs when one of the X chromosomes is fully or partially lost from cells before birth. Symptoms of TS almost always include short stature and lack of pubertal progression. Both of these conditions can benefit from expert treatment from a pediatric endocrinologist. Additionally, TS symptoms often also include subtle structural body changes such a webbed neck, structural heart defects, autoimmune disorders, hearing loss, frequent ear infections, kidney defects, and selective learning difficulties. For this reason, it is crucial to have other pediatric sub-specialty services involved and/or available. The new clinic includes pediatric endocrinology, pediatric cardiology, clinical psychology, medical genetics, pediatric nephrology, reproductive endocrinology, dietician services, and a clinical pharmacist. In addition, Dr. Pinnaro is involved with clinical trials for which some patients may qualify. The current (2023) website for the clinic, including contact information, can be found here : https://uihc.org/childrens/services/turner-syndrome .

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New Practice Guidelines for Care of Cystic Fibrosis-Related Diabetes

Dr. Larson Ode

The treatments available for persons with cystic fibrosis and for persons with diabetes have both been advancing rapidly over the past half-decade. It is no surprise therefore that care for persons with both conditions, termed cystic fibrosis-related diabetes (CFRD), is advancing as well. An updated set of treatment guidelines for CFRD have been issued by the International Society for Pediatric and Adolescent Diabetes. The guidelines have been indexed in Pubmed (pubmed link) and can be found here (doi: link). The lead author of the guidelines is Dr. Katie Larson Ode from our division. Her co-authors include CFRD experts from Minnesota, Colorado, Indiana, Philadelphia, Australia, Canada, Italy, and Germany. We are fortunate to have Dr. Larson Ode’s expertise and leadership in this field.

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New Clues in the Pursuit to Understand the Fatty Acid Imbalance of Cystic Fibrosis

Dr. Norris

Persons with cystic fibrosis typically have an imbalance in their fatty acid levels. A prominent aspect of this imbalance is a deficiency of linoleic acid, which is one of the so-called essential fatty acids. Despite decades of research, the mechanisms of the imbalance are not fully understood. To better understand this fatty acid imbalance, a group of researchers at the University of Iowa, Kansas State University, and the Karolinska Institutet in Stockholm Sweden worked together to study pigs and ferret with cystic fibrosis. The results showed that the imbalance exists at birth even before first feeding. This result argues strongly against one of the leading prior hypotheses which was that the imbalance might stem from the nutrient malabsorption that occurs in cystic fibrosis. Instead, the results suggest that several molecular mechanisms might be responsible for the imbalance, including excess metabolism of arachidonic acid, oxidative isomerization of unsaturated fatty acids, and/or biliary loss of phospholipids containing unsaturated fatty acids. The senior author of the resulting manuscript describing the findings was Dr. Norris from our Division. The work can be found published in the journal Clinical Science (link).