Delayed puberty is a common presentation in paediatric endocrinology which results from many different pathological mechanisms. Pubertal timing is known to be heritable; in the majority of patients presenting with delayed puberty, there is a clear family history of delayed or disturbed puberty. Thus, genetic factors play a key role in determining its timing.

Sasha Howard has reviewed the causal genetic defects associated with disrupted puberty. Genome-wide association studies and next generation sequencing have identified many different genes that associate with pubertal timing, as well as gene defects that lead to delayed puberty. The review highlights key roles for genes that control (a) the development of the gonadotrophin-releasing system during fetal development, (b) the balance of inhibitory and excitatory signals that act upstream of gonadotrophin-releasing hormone secretion, and (c) energy homeostasis and metabolic balance.

These genetic insights have increased understanding of the pathogenesis of disrupted puberty and have future translational potential for the diagnosis and treatment of pubertal disorders.

Read the full article in Journal of Molecular Endocrinology 63 R37–R49

You can also read a feature article by Dr Howard in this issue.