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Two patients with complete hydatidiform mole with 46,XY karyotype
British Journal of Obstetrics and Gynaecology
|July 1, 1984
Summary
Most complete hydatidiform moles originate from a single sperm and are androgenetic. Rare cases with two sperm (dispermy) and a 46,XY karyotype did not lead to persistent trophoblastic disease.
Area of Science:
- Reproductive genetics
- Gynecologic oncology
- Human genetics
Background:
- Hydatidiform moles are abnormal pregnancies often linked to genetic abnormalities.
- Understanding the genetic origin is crucial for predicting patient outcomes.
- Complete hydatidiform moles (CHMs) are typically androgenetic.
Observation:
- Sixty-two CHMs were analyzed for genetic polymorphisms and karyotypes.
- Molar tissue was compared with parental genetic markers.
- Patient follow-up data was collected to assess disease persistence.
Findings:
- The majority of CHMs were androgenetic and homozygous, with a 46,XX karyotype.
- Three CHMs showed heterozygosity, with two confirmed as 46,XY and androgenetic, likely due to dispermy.
- Patients with 46,XY CHMs did not require treatment for persistent trophoblastic disease after 9 months of follow-up.
Implications:
- Confirms androgenetic origin for most CHMs.
- Identifies dispermy as a cause for rare 46,XY CHMs.
- Suggests 46,XY CHMs may have a favorable prognosis regarding persistent trophoblastic disease.