Tag: Dr. Alexandrou

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.

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.

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 .