Kallmann Syndrome, also known as hypogonadotropic hypogonadism, is a rare genetic disorder characterized by delayed or absent puberty and an impaired sense of smell. It is named after Franz Josef Kallmann, the endocrinologist who first described the condition in 1944.
Synonyms
Kallmann Syndrome is often referred to by several synonyms, including:
- Hypogonadotropic Hypogonadism: This term highlights the primary feature of the syndrome, which is a deficiency in the production or release of hormones that stimulate the gonads (testes in males, ovaries in females).
- Idiopathic Hypogonadotropic Hypogonadism: The term "idiopathic" indicates that the cause of the condition is unknown. In Kallmann Syndrome, the exact genetic cause is often not identified.
- Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency: This synonym emphasizes the specific hormonal deficiency that characterizes the syndrome. GnRH is responsible for stimulating the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) from the pituitary gland.
- Gonadotropin Deficiency: This term focuses on the lack of gonadotropins, which are hormones that regulate the function of the gonads.
- Delayed Puberty with Anosmia: Anosmia refers to the inability to perceive odors. This synonym highlights the combination of delayed puberty and the impaired sense of smell that are characteristic of Kallmann Syndrome.
It is important to note that while these terms are used interchangeably, they all refer to the same underlying condition, Kallmann Syndrome.