This review explains the genetic differences between two conditions that initially look similar: delayed puberty (which resolves on its own) and congenital hypogonadotropic hypogonadism (CHH) which requires lifelong treatment. The article describes how genetic testing might be useful in helping to distinguish between these conditions.
Differentiating between delayed puberty and CHH is challenging because both conditions present similarly. Making a timely and correct diagnosis is crucial because the treatments and long-term outcomes are completely different. Some genes cause CHH while others cause delayed puberty yet there is some overlap.
Genetic testing may help identify specific mutations that help predict whether a teenager will eventually go through puberty naturally (on their own) or if they will require hormone treatment. Currently, genetic tests identify a cause in about half of CHH patients. Combining genetic results with clinical features and hormone tests can help improve diagnostic accuracy. This helps doctors provide timely, appropriate treatment and avoids unnecessary worry for individuals with delayed puberty and their families.
