Genetics of puberty.

Area of Science:

• Human Genetics
• Reproductive Endocrinology
• Developmental Neuroscience

Background:

• Puberty is a complex process influenced by genetic and environmental factors.
• Over 17 single-gene mutations are known to cause delayed or absent puberty.
• Some mutations link olfactory system development to hypogonadotropic hypogonadism (Kallmann syndrome).

Purpose of the Study:

• To review the genetic basis of human puberty.
• To evaluate gene mutations associated with disordered puberty.
• To understand the genetic underpinnings of reproductive competency.

Main Methods:

• Literature review of genetic mutations affecting puberty.
• Analysis of gene functions in olfactory and GnRH neuron development.
• Assessment of the contribution of single-gene mutations to puberty disorders.

Main Results:

• At least 17 single-gene mutations are associated with delayed or absent puberty.
• Mutations in olfactory system genes often lead to Kallmann syndrome.
• The kisspeptin-GPR54 signaling system is another key genetic regulator of puberty.
• Single-gene mutations account for approximately 30% of puberty disorder cases.

Conclusions:

• Numerous genes are crucial for achieving reproductive competence.
• The genetic etiology of puberty disorders is complex and increasingly recognized as oligogenic.