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.
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.
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.
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.
Treatment-Induced Neuropathy of Diabetes (TIND) is a insufficiently recognized complication, usually temporary, that can occur after rapid correction of severe hyperglycemia. Its occurrence in the pediatric-aged population has not been well studied. Dr. Eirene Alexandrou has just published a paper describing 7 cases of TIND among children and young adults. She published the work in the Journal of the Endocrine Society (link to paper). The cases occurred in both type 1 and type 2 diabetes, and in each case followed a rapid improvement from severe hyperglycemia. All but 1 of the cases were transient. Symptoms included pain, often burning in nature, numbness, and autonomic disturbance. Management included stabilization of glycemia and medical therapy.
We are pleased to announce that Dr. Eirene Alexandrou is starting as a new pediatric endocrinologist in our division. She received her Medical Degree from Indiana University School of Medicine, completed a residency in pediatrics at the Medical College of Georgia, and just completed a fellowship in pediatric endocrinology at the prestigious Cincinnati Children’s Hospital. She has published expertise in the areas of growth research (link) and Turner Syndrome. In clinic, her initial practice will include general pediatric endocrinology and diabetes, as well as outreach services in Cedar Rapids and Dubuque.