What is the primary cause of Kallmann syndrome?

Kallmann syndrome primarily stems from isolated gonadotropin deficiency, which is caused by a failure of the hypothalamus to produce sufficient amounts of gonadotropin-releasing hormone (GnRH). This insufficiency leads to reduced secretion of the pituitary hormones LH (luteinizing hormone) and FSH (follicle-stimulating hormone), which are crucial for normal sex development and function.

In individuals with Kallmann syndrome, this hormonal deficiency often manifests as delayed or absent puberty, infertility, and possibly other associated symptoms such as anosmia (loss of the sense of smell), due to the developmental issues that occur in the hypothalamus during embryonic life. While genetic mutations can indeed play a role in the development of Kallmann syndrome, the core issue revolves around the isolated deficiency of gonadotropins, making it a primary cause in the context of this condition.

In contrast, hormonal imbalances could encompass a wide range of conditions and are too broad to specifically define Kallmann syndrome. Genetic mutations, though relevant to some cases of the syndrome, are not the primary pathological mechanism but rather part of a larger picture. Structural abnormalities may occur in some presenting features of Kallmann syndrome; however,