Premature ovarian insufficiency (POI) affects 1 in 100 women under 40(1,2). It is defined by the presence of over 4 months of primary or secondary amenorrhoea, onset under 40 years, and a follicle stimulating hormone (FSH) level of >25mlU/ml(1). POI is a well described complication of acute myeloid leukaemia (AML) treatment(3). Currently, no clinical test accurately predicts conception potential in patients with POI. Given the diagnosis heterogeneity, there is variation in POI pregnancy rates in the literature (from 2.2% - 14.2%) and no well described spontaneous pregnancy rates(4)
This case describes a female diagnosed with AML during her post pubertal teenage years. Treatment included cumulative doses of doxorubicin 200mg/m2, etoposide 1400mg/m2 and cyclophosphamide 3600mg/m2, allogeneic stem cell transplant and total-body irradiation (12Gray). Treatment was complicated by POI diagnosed during conditioning chemo-radiotherapy.
Twenty years post-treatment, she conceived via in vitro fertilization using a donor oocyte. The pregnancy was complicated by placental insufficiency, necessitating delivery via caesarean section at 32+4 weeks gestation. Hormone replacement therapy (oestradiol/dydrogesterone 2mg/10 mg daily) was recommenced 10 weeks postpartum. At twelve months postpartum the patient underwent fibroid ultrasonography surveillance which revealed a spontaneous live intrauterine pregnancy. Non-invasive prenatal testing (NIPT) indicated risk for chromosome 1p and 14q deletions, and monosomy 15. Foetal morphology scans were reassuring. Normal FISH and microarray results were obtained from amniocentesis. A bone marrow biopsy showed no clonal abnormalities to suggest AML relapse. The NIPT results were attributed to fibroids, supported by evidence in the literature of uterine leiomyomas being the most common benign tumours associated with false-positive NIPT results(5).
This case underscores the rare potential for spontaneous pregnancy in patients with established POI. It demonstrates the importance of comprehensive discussions about contraception options in patients with POI, and the need for long-term monitoring for cancer survivors.