Gonadotrophin releasing hormone deficiency
Gonadotropin Releasing Hormone Deficiency: Causes, Symptoms, and Treatment
Gonadotropin releasing hormone (GnRH) deficiency, also known as hypogonadotropic hypogonadism, is a rare genetic disorder in which the body fails to produce adequate amounts of gonadotropin hormones. This, in turn, leads to delayed or absent sexual development, infertility, and other serious health disorders. Despite its rarity, treatments exist to help individuals manage the condition in the most effective and safe manner possible.
Causes
Gonadotropin releasing hormone deficiency can be caused by mutations in one of the six genes that help regulate the production of GnRH hormones, as well as the pituitary gland's response to these hormones. These genes are DLX3, LHB, TAC3, KAL1, GNRHR, and FSHβ. Mutations in these genes can lead to the body's inability to produce sufficient amounts of GnRH, resulting in hypogonadotropic hypogonadism.
Symptoms
The primary symptom of GnRH deficiency is delayed or absent sexual development, which manifests differently depending on the person affected. In females, this may include the absence of secondary sexual characteristics, such as growth of breast tissue, pubic hair, and body fat distribution changes. In males, this may include an absence of secondary sexual characteristics, such as growth of facial and body hair, testicular enlargement, deepening of the voice, and musculature development.
Other symptoms can include:
- Amenorrhea (absence of menstrual periods)
- Infertility
- Lack of sex drive
- Excessive tiredness and fatigue
- Depression or anxiety
- Growth problems
Treatment
Gonadotropin releasing hormone deficiency is treated primarily by replacing the hormones, either through hormone therapy or gonadotropin-releasing hormone analogue (GNRH-A) treatments. The goal of hormone replacement therapy is to reduce symptoms and return the individual's hormone levels to normal. Both hormone therapy and GNRH-A treatments can also be used to help the individual become fertile once again.
In some cases, surgery may also be needed to remove affected tissues, such as in the case of hypogonadotropic hypogonadism caused by abnormal pituitary gland structure or tumors. In addition, lifestyle changes, such as exercising regularly and eating a balanced diet, can help to reduce symptoms associated with the disorder.
