About this Research Topic
In this Research Topic we would like to provide an overview of the most recent advances in the discovery of novel mechanisms leading to growth impairment associated with endocrine defects. These will include genomic disorders, epigenetic causes of diseases and monogenic defects leading to the most severe cases of short stature that might be associated with endocrine dysfunctions. Sometimes variants of moderate effect explain cases of short stature that are less extreme than those observed in single gene disorders with distinct classical syndromic phenotype. In some instances, the identification of epigenetic alterations allows for a better definition and classification of different conditions characterized by dwarfism.
Genome Wide Association Studies on human height also contributed to identifying novel height determinants that might be altered in severe forms of growth defects. The introduction of Next Generation Sequencing and Microarray analysis in the diagnostic workflow of Growth Disorders currently allows for the detection of mutations and genomic alterations that remained without a precise diagnosis so far. This allowed for a decrease in the cost and response time for clinical and molecular diagnostics and provided an important contribution to the improvement of therapeutic choices.
We are particularly interested in Original Research articles and Reviews covering the following subjects:
• Growth Disorders caused by genetic defects in pituitary hormones
• Monogenic causes of short stature
• Genomic rearrangements in short stature
• Imprinting disorders causing growth defects
• GWAS in human height and growth disorders
Keywords: Growth disorders, short stature, gene mutations, Pituitary hormone deficiency, imprinting disorders
Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.