Spontaneous Pregnancy in a Patient with Mosaic Turner Syndrome: A Case Report and Review of Fertility and Pregnancy Management

Ramya Ravichandar¹, Rajam Krishna S², Priya  Sivashankar³, Sujai  Anand*⁴

This study shows rare spontaneous conception in mosaic Turner syndrome, emphasizing early fertility counseling and multidisciplinary pregnancy management.

Abstract

Background: Turner syndrome (TS) is a chromosomal disorder affecting 1 in 2,500 females, characterized by the complete or partial absence of one X chromosome. A hallmark feature of TS is infertility due to ovarian dysgenesis. However, in rare cases, spontaneous pregnancies can occur, particularly in patients with mosaicism. Methodology: This case report discusses a 25-year-old primigravida with mosaic Turner syndrome who achieved spontaneous pregnancy. The patient, diagnosed in adolescence due to short stature, reported regular menstrual cycles starting at age 14, which is unusual for TS patients. Results: At 38 weeks and 2 days of gestation, the patient presented with spontaneous labor and successfully delivered a healthy female neonate weighing 2760 g. This outcome was achieved without assisted reproductive technologies, illustrating the potential for natural conception in a subset of Turner syndrome patients. Conclusion: While spontaneous conception is rare in Turner syndrome, occurring in approximately 5.6% of cases, this report highlights the importance of discussing fertility-preserving options and potential pregnancy risks with TS patients and their families early in the diagnostic process. Early counseling and a multidisciplinary approach are critical for managing reproductive health and ensuring safe pregnancy outcomes in TS patients.

Keywords: Turner syndrome, Mosaicism, Spontaneous conception,  Fertility preservation,  Pregnancy management .

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