Short stature due to GHSR deficiency

Short stature due to GHSR deficiency is a rare genetic condition that causes children to grow more slowly than expected, resulting in shorter-than-average height. GHSR stands for Growth Hormone Secretagogue Receptor, which is a protein found on cells in the brain and other tissues. This receptor normally responds to a hormone called ghrelin, which plays an important role in stimulating the release of growth hormone from the pituitary gland. When the GHSR gene has mutations that reduce or eliminate the function of this receptor, the body does not release enough growth hormone in response to ghrelin signals. This leads to partial growth hormone deficiency and short stature. Children with this condition are typically born at a normal size but gradually fall behind their peers in height during childhood. Some individuals may also have delayed puberty or a slower growth rate during adolescence. The condition can vary in severity — some people are only mildly short while others are significantly below average height. Other features may include reduced appetite and lower body weight, since ghrelin also plays a role in hunger signaling. Treatment usually involves growth hormone replacement therapy, which can help improve final adult height if started early enough. The condition is generally not life-threatening, and individuals typically have a normal lifespan. Early recognition and referral to a pediatric endocrinologist are important for the best outcomes.

Bring these to your next appointment

• Q1.How severe is my child's growth hormone deficiency, and what final height can we expect with and without treatment?,Is growth hormone therapy recommended, and when should we start?,What are the potential side effects of growth hormone injections?,How often will my child need follow-up visits and blood tests?,Should other family members be tested for GHSR mutations?,Are there any newer or longer-acting growth hormone treatments available?,Will this condition affect my child's puberty or fertility?

Common questions about Short stature due to GHSR deficiency