[Fertility in Turner's syndrome]

Area of Science:

• Reproductive Endocrinology
• Human Genetics
• Developmental Biology

Background:

• Turner syndrome (45,X0) is a chromosomal condition affecting females, often associated with reproductive challenges.
• Pregnancies in individuals with Turner syndrome are infrequent and carry significant risks, including high rates of spontaneous abortion and fetal malformations.
• Mosaic forms of Turner syndrome, involving a mix of chromosomal complements, may present different reproductive outcomes.

Observation:

• A case of Turner syndrome with a 45,X0/47,XXX chromosomal complement is presented.
• The patient experienced two pregnancies, with both children born healthy and demonstrating normal psychomotor development.
• Associated congenital anomalies included aplasia of the right kidney and uterus bicornis.

Findings:

• This case represents one of only 28 reported instances of pregnancy in individuals with Turner syndrome, with only 6 cases not specifying mosaicism.
• The successful outcomes of both pregnancies, with healthy offspring, are notable given the generally high incidence of adverse pregnancy events in Turner syndrome.
• The presence of specific malformations (renal aplasia, uterus bicornis) in the patient did not preclude successful gestation and delivery.

Implications:

• This case expands the limited data on reproductive potential and outcomes in mosaic Turner syndrome.
• It suggests that successful pregnancies and healthy offspring are possible, even with co-existing congenital anomalies.
• Further research into the factors influencing successful pregnancy in Turner syndrome is warranted to improve reproductive counseling and management.