Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes
The use of targeted gene panels now allows the analysis of all the genes known to cause a disease in a single test. For neonatal diabetes, this has resulted in…
Hyperinsulinemic Hypoglycemia
In hyperinsulinemic hypoglycemia (HH) there is dysregulation of insulin secretion from pancreatic β-cells. Insulin secretion becomes inappropriate for the level of blood glucose leading to severe hypoglycemia. HH is associated…
Gender Variance and Dysphoria in Children and Adolescents
Gender variant and transgender youth are seeking medical care at younger ages. Pediatricians and other primary care physicians are often the first professionals who encounter such youth and their families….
Approach to the Infant with a Suspected Disorder of Sex Development
A newborn with genital ambiguity requires careful diagnostic evaluation to identify the underlying etiology in an efficient manner and assign gender without lengthy delay. The infant’s family needs comprehensive psychosocial…
Short Stature
Some proponents of recombinant human growth hormone (rhGH) treatment in growth hormone–sufficient children cite height, as an isolated physical characteristic, as being associated with psychosocial morbidity. Others question the reliability…
Disorders of Menstruation in Adolescent Girls
Abnormal menstruation in adolescent girls can cause psychological and physical strain from excess, unpredictable, painful, or even absent bleeding. Care providers who understand what is normal and what is concerning…
Interpreting Minor Variations in Thyroid Function or Echostructure
Overt thyroid dysfunction is documented by serum thyrotropin or T4 concentrations are often ordered for nonspecific complaints and will by definition fall outside of the 95% reference range 5% of…
The Impact of Diabetes on Brain Function in Childhood and Adolescence
A constant supply of glucose to the brain is critical for normal cerebral metabolism. The dysglycemia of type 1 diabetes (T1D) can affect activity, survival, and function of neural cells….
Long-term Outcomes in Youths with Diabetes Mellitus
In this article, the author reviews the long-term outcomes and their precursors of type 1 diabetes starting in youth. The author also contrasts the changing incidence of these long-term complications…
The Impact of Technology on Current Diabetes Management
Technological innovations have revolutionized the treatment of type 1 diabetes. Although technological advances can potentially improve diabetes outcomes, maintenance of target glycemic control, at the present time, remains largely dependent…
