A misdiagnosis corrected and infertility overcome by Nova Fertility through science

Swati (name changed), a 33 years old software engineer from Bangalore had issues with her menstrual cycle from the time she was young. She married Mahesh (36 years) and the couple tried to conceive a child through IVF for 3 years without any success. At the age of 18, after a laparoscopic surgery, she was misdiagnosed with testicular feminising syndrome and was being treated for that. Swati had one failed IVF cycle with donor oocytes done at a fertility clinic in Bangalore.

What is testicular feminising syndrome?

Testicular feminising syndrome, a genetic disorder that makes XY foetuses unresponsive, i.e., chromosomally male foetuses become unresponsive to male sex hormones (androgens), leading to the birth of an externally female looking child with a blind-pouch vagina and with testes inside, but no uterus, fallopian tubes or ovaries. There are testes in the abdomen or the inguinal canal.

Consultation at Nova IVF Fertility

After visiting various other IVF clinics, the couple decided to visit Nova IVF Fertility in Bangalore. In 2015, the fertility consultant at Nova found that Swati had a small uterus, and diagnosed her with Swyer syndrome, not testicular feminising syndrome. This rare form of infertility can be treated with Assisted Reproductive Technology (ART) and Hormone Replacement Therapy (HRT).

Swyer Syndrome – What is it and how is it managed?

Women generally have a karyotyping of 23 pairs of XX chromosomes, and men have 23 pairs of XY chromosomes. However, a woman with Swyer Syndrome has an XY chromosomal makeup, making her a genetically male individual with female external genitalia, vagina, fallopian tubes and a uterus. Such a woman either has no ovaries at all or has ovaries that are not completely developed, thus making it impossible for her to conceive naturally. Swyer Syndrome is known to occur in 1 in 30,000-50,000 births.

Swyer Syndrome is not a disease but a genetic condition where a woman is born with under developed sex glands. There is no treatment to overcome this disorder, however due to medical advancements; there are many ways through which the limitations faced by the individual can be addressed. As women with Swyer Syndrome are born infertile, the best way for them to conceive and experience motherhood is through IVF and donor eggs. Advanced ART techniques have become a boon to couples with acute genetic disorders.

Treatment and outcome at Nova IVF Fertility

The fertility consultant at Nova IVF Fertility suggested Endometrial Receptivity Array (ERA), a test that determines the window of implantation in women. Based on the results, a personalised frozen embryo transfer was done, and Swati conceived and delivered a healthy baby in 34 weeks.