How Is Swyer Syndrome Treated?

Swyer syndrome is a disorder where sex glands - ovaries or testes - fail to develop normally. The syndrome is a disorder of sex development (DSD) that comprises any chromosomal, anatomic or gonadal abnormalities in sex development. A woman with Swyer syndrome has XY chromosome pattern (which is generally found in boys) instead of the normal XX chromosome pattern that they generally possess.

Even though affected by this syndrome, women look like other normal females and also have a fully functional uterus, vagina, and fallopian tubes. The only organ that they lack is a fully developed ovary (aplasia condition), and instead, they have gonadal streaks or functionless fibrous tissues in place of it. Women with Swyer syndrome do not produce sex hormones and do not attain puberty. The main reason for this disease is the mutation of chromosomes.

Treating Swyer Syndrome

Treatment for Swyer syndrome requires a collective effort of various specialists who can comprehensively plan an appropriate treatment for affected girls. Genetic counseling also plays a huge role in helping patients and their families to cope up with the situation emotionally. Apart from this, there are certain specific treatments and therapies given to girls with Swyer syndrome.

Hormone replacement therapy: This method is applied to induce puberty (in a child) and restore hormone balance in the body. It also helps in the development of secondary sexual characteristics in the child. Most importantly, hormone replacement therapy helps to prevent osteoporosis (bone thinning or bone loss). Estrogen and progesterone are administered to the girls to prevent complications of this syndrome and also to prepare the uterus for future pregnancy.

Gonadectomy: The streak gonads are generally removed surgically to prevent the development of the gonadal tumour.

Women having this syndrome can undergo medically assisted reproduction such IVF and ICSI to bear children, in case they are diagnosed infertile. They can get pregnant from donated oocytes that are stored using cryopreservation.