Next-generation sequencing approach in the diagnosis of delayed puberty

© 2020 Elsevier Ltd The inheritance of pubertal timing is strongly influenced by genetic regulators, with conditions of delayed or absent puberty segregating within families often with Mendelian inheritance patterns. As such, these conditions are amenable to genetic discovery through next-generation sequencing. This review covers the significant advances in understanding of the biological mechanisms of delayed puberty that have occurred in the last 5–10 years with the use of this technology