luteolüüs

Luteolüüs is a rare and complex genetic disorder characterized by the absence of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) production, leading to infertility and other reproductive issues. The condition is caused by mutations in the LH beta subunit gene (LHB) or the FSH beta subunit gene (FSHB), which are essential for the synthesis of these hormones. Luteolüüs is inherited in an X-linked recessive manner, meaning it primarily affects males, as the affected gene is located on the X chromosome. Females can be carriers of the mutation without showing symptoms.

The primary symptoms of luteolüüs include primary amenorrhea (absence of menstruation), infertility, and hypogonadism (reduced function of the gonads). Males with luteolüüs may exhibit small testes, reduced libido, and infertility. The diagnosis of luteolüüs is typically made through genetic testing, which identifies mutations in the LHB or FSHB genes.

There is currently no cure for luteolüüs, but treatment options focus on managing symptoms and improving quality of life. Hormone replacement therapy can help alleviate symptoms such as hypogonadism and infertility. Additionally, genetic counseling and carrier testing for family members can provide valuable information and support.

Luteolüüs is a challenging condition to manage, but with appropriate medical care and support, individuals with luteolüüs can lead fulfilling lives. Ongoing research aims to improve understanding and treatment options for this rare genetic disorder.