Fuller Albright first described a condition he termed Primary Ovarian Insufficiency (POI) in 1942 when he reported a syndrome of amenorrhea, estrogen deficiency and menopausal Follicular Stimulating Hormone (FSH) levels in young women (1). The syndrome affects approximately 1% of the female population.
Herein, we report such a case that had primary amenorrhea and presented with full term pregnancy.
A 29-year-old woman attended antenatal out-patient department of North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences (NEIGRIHMS), Shillong, Meghalaya, India with full term pregnancy in October 2009. She gave a very interesting history of primary amenorrhea with a few episodes of withdrawal bleeding upon hormonal treatment in the past. For the past 3 – 4 years she had not been receiving any treatment and had remained amenorrhoeic. After 4 years of marriage, she went to a local doctor for nausea and vomiting and, to her surprise, her urine pregnancy test was positive. Her pregnancy was later confirmed by ultrasound. Her Expected Date of Delivery (EDD) was calculated from the first trimester ultrasound, which confirmed the gestational maturity.
On examination, her vital signs were within normal limits. On per abdominal examination, uterus was found to be in the form of a full-term pregnancy. The fetus was in cephalic presentation and Fetal Heart Rate (FHR) was 136 beats per minute and regular. Per vaginal examination revealed a closed internal Os with soft, short and central cervix. Pelvis seemed adequate for delivery of the fetus. Caesarean section was performed on maternal request and a healthy male baby weighing 2.5 kg was delivered. She had an uneventful puerperium.
Primary Ovarian Insufficiency has varied manifestations of amenorrhea, oligomenorrhea or dysfunctional uterine bleeding. Overall, approximately 10% of women with POI present with primary amenorrhea (2, 3). Young women who develop POI need special care.
A similar case of spontaneous pregnancy has been reported in a 27-year old woman with hyper-gonadotropic ovarian failure (4).
We suspected her to be a case of primary ovarian insufficiency on the basis of history alone and in the absence of any laboratory test of increased FSH, since we admitted her for the first time in full term pregnancy. There was also no suggestive family history or any associated medical disorders.
This case was reported to emphasize the real chances for a spontaneous conception because of the intermittent and unpredictable ovarian function in these patients.
Primary ovarian insufficiency occurs in only 1 % of women it can still result in spontaneous pregnancy in 5-10% of the cases. Egg donation is still considered the best option for infertility in such women. Women with POI should be educated on the nature of the disease and the current research efforts. It is important to be aware of the condition and the options for future treatment.