This review discusses Kallmann syndrome (KS) including genetics and how patients are currently diagnosed and treated.
Many patients with KS go undiagnosed or are diagnosed very late (often around age 18-19). Late diagnosis can cause psychological distress as well as missed opportunities to start timely treatment. The article emphasizes that early treatment may help improve wellbeing and fertility outcomes, especially in males.
The article advocates for better detection methods to help people be diagnosed earlier. In particular, male infants showing "red flags" like undescended testes or micropenis point to KS. The article describes how special hormone treatment (called gonadotropin treatment) during infancy can stimulate testicular development and increase future fertility potential. For adult patients, the article explains how specialized hormone treatment in adulthood can be used to recreate the "mini-puberty" and may optimize fertility chances.
