Mosaic Turner Syndrome With Multiple Spontaneous Pregnancies: A Case Report.

Area of Science:

• Genetics
• Reproductive Medicine
• Gynecology

Background:

• Turner syndrome (TS) is a chromosomal abnormality affecting females, characterized by the absence of all or part of one X chromosome.
• While TS often causes infertility, the mosaic form (presenting with different cell lines, e.g., 45,X/46,XX) may allow for pregnancy, though typically with complications.
• Pregnancies in TS patients are associated with increased risks of miscarriage, fetal demise, and maternal complications.

Observation:

• A 34-year-old female with mosaic Turner syndrome (45,X/46,XX) presented with secondary infertility.
• Her obstetric history included nine spontaneous pregnancies, resulting in two healthy births, seven first-trimester miscarriages, one intrauterine fetal demise, and one infant death at six months.
• This extensive history underscores the reproductive challenges faced by individuals with mosaic TS.

Findings:

• The case details a patient with a history of significant reproductive loss despite having mosaic Turner syndrome.
• The specific chromosomal makeup (45,X/46,XX) is noted in the context of her reproductive challenges.
• Limited data exists on pregnancy outcomes in mosaic Turner syndrome, making each case valuable.

Implications:

• This case contributes to the limited body of knowledge regarding pregnancy in mosaic Turner syndrome.
• Understanding such cases can help in counseling and managing future pregnancies in patients with TS.
• Further research is needed to improve pregnancy success rates and outcomes for individuals with mosaic Turner syndrome.