Demonstrating the Effectiveness of Growth Hormone Therapy for Aggrecan Deficiency

Dr. Eirene Alexandrou

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.

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