Special Issue “Genetics in Pediatric Endocrinology”

From the initial suspicion of the role of DNA and inheritance in endocrine disorders, to an era where the structures and functions of hormones and receptors, along with the evolving role of genetics in their synthesis has improved our understanding of how these affect human growth and development. Pediatric Endocrinology Board certification requirements include not only working with a number of endocrine and diabetes patients but also understanding the laboratory assessment of patients, including formal training in performing immunoassays and completing a course in molecular genetics. [...]how lifesaving and life-enhancing role of screening helped with the discovery and expansion of the knowledge on genetic etiology of these two groups of disorders, and, also of other genetic disorders associated with them. A glimpse of the role of epigenetic differences in altering the gene expression and phenotype presentations noted in TS and central precocious puberty (CPP), as well as the lesser-known role of whole-genome sequencing, may shed light on the genetic etiology of CPP.