cHHT

cHHT stands for congenital hypogonadotropic hypogonadism. It is a rare genetic disorder that affects the reproductive system. Individuals with cHHT have a deficiency in the production of gonadotropin-releasing hormone (GnRH) from the hypothalamus. GnRH is essential for stimulating the pituitary gland to release follicle-stimulating hormone (FSH) and luteinizing hormone (LH). These hormones, in turn, signal the testes in males and ovaries in females to produce sex hormones and gametes.

The lack of GnRH leads to insufficient levels of FSH and LH, resulting in delayed or absent puberty. In males, this can manifest as underdeveloped testes, lack of secondary sexual characteristics like deep voice and facial hair, and infertility. In females, symptoms include absent or irregular menstruation, underdeveloped breasts, and infertility. cHHT can also be associated with other conditions, such as anosmia (loss of the sense of smell), a condition known as Kallmann syndrome, which is a subtype of cHHT.

Diagnosis of cHHT typically involves a combination of medical history, physical examination, hormone level testing, and genetic testing. Treatment aims to restore puberty and fertility. This is usually achieved through hormone replacement therapy, often involving pulsatile GnRH therapy or gonadotropin injections. The effectiveness of treatment can vary depending on the individual and the specific genetic cause. cHHT is a lifelong condition that requires ongoing medical management.