Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.

Mutations in multiple genes of the growth hormone/IGF-I axis have been identified in syndromes marked by growth failure. However, no pathogenic human mutations have been reported in the six high-affinity IGF-binding proteins (IGFBPs) or their regulators, such as the metalloproteinase pregnancy-associated plasma protein A2 (PAPP-A2) that is hypothesized to increase IGF-I bioactivity by specific proteolytic cleavage of IGFBP-3 and -5. Multiple members of two unrelated families presented with progressive growth failure, moderate microcephaly, thin long bones, mildly decreased bone density and elevated circulating total IGF-I, IGFBP-3, and -5, acid labile subunit, and IGF-II concentrations.

The effect of oral leucine on protein metabolism in adolescents with type 1 diabetes mellitus.

Lack of insulin results in a catabolic state in subjects with insulin-dependent diabetes mellitus which is reversed by insulin treatment. Amino acid supply, especially branched chain amino acids such as leucine, enhances protein synthesis in both animal and human studies. This small study was undertaken to assess the acute effect of supplemental leucine on protein metabolism in adolescents with type 1 diabetes.

Celiac disease in children, adolescents, and young adults with autoimmune thyroid disease.

Objective: To determine the prevalence of antibodies associated with celiac disease and biopsy-proven celiac disease in children with autoimmune thyroid disease.

Study Design: A total of 302 patients with positive anti-thyroid antibodies were prospectively studied. Total immunoglobulin A (IgA) and tissue transglutaminase-IgA (tTG-IgA) levels were obtained.

Does pituitary stalk function improve with age?

Ectopic posterior pituitary hyperintensity on MRI is a common feature associated with growth hormone deficiency. The presence of at least some residual components of the pituitary stalk is necessary for adequate anterior pituitary function. Little is known about long-term change in pituitary function or MRI findings in patients with ectopic posterior pituitary and interrupted pituitary stalk.

Effect of insulin with oral nutrients on whole-body protein metabolism in growing pubertal children with type 1 diabetes.

Insulin treatment of children with insulin-dependent diabetes mellitus improves whole body protein balance. Our recent study, conducted in pubertal children with type 1 diabetes with provision of both insulin and amino acids, indicated a positive effect of insulin on protein balance, primarily through decreased protein degradation. The current study was undertaken to assess the effect of insulin on protein metabolism in adolescents with type 1 diabetes during oral provision of a complete diet.