[Fertility and Turner syndrome].

Area of Science:

• Reproductive Endocrinology
• Human Genetics
• Clinical Case Reports

Background:

• Turner syndrome, characterized by partial or complete absence of the X chromosome, typically presents with gonadal dysgenesis and infertility.
• Mosaic forms of Turner syndrome, such as 45,X/47,XXX, present unique genetic profiles and potential reproductive outcomes.
• Gonadal dysgenesis involves the incomplete development of the ovaries, leading to hormonal imbalances and impaired fertility.

Observation:

• A rare case of pregnancy in a woman diagnosed with Turner syndrome (45,X/47,XXX mosaicism) is presented.
• A literature review identified 31 additional cases of fertility in women with gonadal dysgenesis and a 45,X chromosomal line.
• The reported pregnancy and literature cases highlight the possibility of conception despite chromosomal abnormalities affecting ovarian development.

Findings:

• Pregnancy in individuals with Turner syndrome is exceptionally uncommon due to gonadal dysgenesis.
• Women with gonadal dysgenesis and a 45,X chromosomal line demonstrate a low but present capacity for fertility.
• The reviewed literature indicates a high incidence of adverse pregnancy outcomes, including abortion and stillbirth, in this population.

Implications:

• These findings underscore the importance of genetic counseling and reproductive options for women with Turner syndrome and related chromosomal abnormalities.
• Further research is warranted to understand the mechanisms underlying fertility and to improve pregnancy outcomes in women with gonadal dysgenesis.
• The case contributes to the limited body of knowledge on reproductive potential in mosaic Turner syndrome, emphasizing individualized assessment.