Smego AR, Backeljauw P, Gutmark-Little I. Buccally Administered Intranasal Desmopressin Acetate for the Treatment of Neurogenic Diabetes Insipidus in Infancy. J Clin Endocrinol Metab. 2016 May;101(5):2084-8.
This manuscript describes a novel treatment approach, orally administered intranasal DDAVP for infants with neurogenic diabetes insipidus including dosing parameters and outcomes.
de Bruin C, Dauber A. Insights from exome sequencing for endocrine disorders. Nat Rev Endocrinol. 2015 Aug;11(8):455-64.
Whole-exome sequencing has emerged as a fast and effective tool for the elucidation of genetic defects underlying both rare and common human diseases. Within the field of endocrinology, exome sequencing has led to major advancements in our understanding of many disorders including adrenal disease, growth and puberty disorders and type 2 diabetes mellitus, as well as a multitude of rare genetic syndromes with prominent endocrine involvement. In this Review, we provide an overview of these new insights and discuss the role that exome sequencing we expect to have in endocrine research and future clinical practice.
Rose SR. Hormone Therapy in Fanconi Anemia. Expert Opin Orphan D. 2015; 3:831-42
Children with Fanconi anemia (FA) have unrepaired chromosomal breakage that leads to chronic risk for cancer, requirement for bone marrow transplant, and endocrine deficiencies. I wrote this article to alert practitioners to endocrine testing that can allow hormone treatments. Hormone replacement may improve quality of life in these children and young adults. About 80% of children and adults with FA have at least one endocrine abnormality, and benefit from thyroid hormone therapy as well as vitamin D therapy. Some benefit from growth hormone therapy. Metformin may be beneficial if overweight develops, in view of underlying insulin deficiency in FA. Early gonadal failure may occur. Individuals with FA should be routinely screened for endocrine abnormalities, and when found to have hormone deficiencies, treat them with standard endocrine therapy.
Shah AS, Dabelea D, Fino NF, Dolan LM, Wadwa RP, D'Agostino R Jr, Hamman R, Marcovina S, Daniels SR, Urbina EM. Predictors of Increased Carotid Intima-Media Thickness in Youth With Type 1 Diabetes: The SEARCH CVD Study. Diabetes Care. 2016 Mar;39(3):418-25.
Carotid intima media thickness (IMT) is a non-invasive cardiovascular imaging technique used to detect early atherosclerosis. Youth with type 1 diabetes have shown to have a higher carotid IMT compared to their peers without diabetes. However, the risk factors that predict a higher carotid IMT are not known. In this study Dr. Amy Sanghavi Shah, MD, MS, in the Division of Endocrinology, Dr. Elaine Urbina, MD, MS, in the Division of Cardiology, and their collaborators in the SEARCH for Diabetes in Youth Study studied 298 youth with type 1 diabetes at baseline, and then five years later. Researchers assessed body mass index (BMI) z score, lipids, blood pressure, hemoglobin A1c and smoking status at both visits, and measured carotid IMT at follow-up. Over five years, all cardiovascular risk factors worsened. However, only higher body mass index over time can be an important determinant of carotid IMT. This study highlights the importance of body weight as a risk factor for the development of atherosclerosis, and the need to maintaining a normal body weight in youth with type 1 diabetes.