ELI5: Explain Like I'm 5

Genetics of GnRH deficiency conditions

Genetics is like a recipe book for your body. It tells your body how to be made and how to work. GNRH deficiency is when your body doesn't make enough of the hormone called GNRH. This hormone helps your body make other hormones called LH and FSH, which tell your body to make more hormones like estrogen and testosterone. Without enough GNRH, your body can't make these hormones and you might not go through puberty like other kids your age.

Scientists have found that sometimes GNRH deficiency can be caused by changes in your genes. Genes are like the instructions in your recipe book. Sometimes the instructions can be wrong or missing altogether. For GNRH deficiency, there are a few different genes that can be affected. One of these genes is called KISS1R. This gene makes a protein that helps your body respond to GNRH. If there's a mistake in the KISS1R gene, your body might not be able to respond to GNRH properly.

Another gene that can be involved in GNRH deficiency is called GNRHR. This gene makes the receptor that GNRH attaches to in your body. If there's a mistake in the GNRHR gene, your body might not be able to recognize GNRH properly.

Sometimes, changes in other genes can also affect GNRH production. For example, mutations in genes that regulate brain development like PROKR2 or FGFR1 may also lead to GNRH deficiency.

Overall, genetics is an important factor in GNRH deficiency. However, there are also other factors that can cause this condition, such as head injuries, infections or tumors affecting the area in the brain where GNRH is produced. Having a better understanding of the genetics of GNRH deficiency can help doctors diagnose and treat this condition more effectively.