Hyderabad Woman with Rare Turner Syndrome Achieves Pregnancy

Hyderabad, 01 March, 2024: In an extremely rare case, a woman with Turner Syndrome conceived and gave birth to a healthy child in Hyderabad. Sheila (name changed, 30) and her husband, Hussain (name changed, 32), have been married for over three years and were unable to conceive naturally or with in vitro fertilisation (IVF) despite trying for over a year. This changed when the couple visited a city-based IVF hospital where she was diagnosed with Turner Syndrome.

Turner’s syndrome is a rare genetic disorder characterized by absence or abnormality in one of X chromosome in the affected female. These individuals are characterised by short stature, broad chest, webbed neck, heart defects, swollen hands and feet, inability to straighten the elbow joints, low hairline, hearing problems, and absence of menstruation. Moreover, sexual development is stunted in individuals with Turner Syndrome, leading to underdeveloped ovaries and infertility.

Upon consultation, it was found that Sheila had attained menarche or the beginning of menstruation at 13 years of age, experiencing less blood flow and irregular cycles ever since. Her short stature, small uterus, and small ovaries with few antral follicles led her doctors to study her chromosomes (called karyotyping). This concluded that she has one less than the normal number of chromosomes found in human beings, that is, Sheila has 45 chromosomes instead of 46. Hussain was found to have normal health parameters.

Dr Trupthi Ganapathi – Gynaecologist & IVF Specialist from Indira IVF Hyderabad who worked on the case and treated the patients said, “Sheila’s Turner Syndrome diagnosis indicated a significant impact to her fertility. Despite the initial setback experienced by the couple, we devised a personalised and comprehensive treatment plan to enhance her reproductive health. This included Hormone Replacement Therapy (HRT) to prime her uterus, while additional procedures like hysteroscopy cavity enhancement, and platelet-rich plasma (PRP) therapy further optimised the uterine environment. This helped achieve an endometrial thickness of 7mm before embryo transfer.”

Thereafter, a single good grade embryo was carefully selected and transferred resulting in a successful pregnancy. With regular medical follow-ups, comprehensive healthcare to ensure the mother and baby’s well-being, Sheila and Hussain had a child at 36 weeks.