Pages

Showing posts with label infant. Show all posts
Showing posts with label infant. Show all posts

Tuesday, 17 February 2015

Since first it was my fate to know thee



Just a quick update to highlight a case report I find particularly important when considering the origin of endometriosis. This case report from the US is of a pregnant woman who, after a scan at 35 weeks, was told that her unborn child had a large abdominal mass measuring roughly 6.5 x 4.8cm, a mass which there was no sign of at the 20 week scan. A further scan at 37 weeks revealed that the mass, which had all the hallmarks of a large cyst, had grown to 7.8 x 6.8cm. No doubt fearing for the health of both mother and unborn child, the decision was made to induce the pregnancy at 38 weeks. After delivery the infant was operated on, the cyst removed and was otherwise perfectly healthy.

Analysis of the cyst revealed the tell-tale signs of an ovarian endometriotic cyst i.e. a thin walled cyst filled with reddish-brown fluid, which the pathologist later confirmed. Ovarian cysts in unborn females foetuses are not unheard of, but are extremely rare and endometriotic cysts even rarer, in fact this is the first case I’ve seen reported.

I have though, seen reports on microscopic endometriosis being found unborn female foetuses and talked about them here. However, these findings usually describe very small areas of endometriosis, hardly what you could call ‘mature’ disease. This most recent case is particularly unusual then as it represents what’s is termed ‘advanced’ stage endometriosis (although in reality there is some contention as to whether endometriosis is a progressive disease and therefore whether words like ‘early’ and ‘advanced’ stage endometriosis are even relevant). Certainly this case casts doubt on the assumed notion that endometriosis progresses to further stages as you get older.

Furthermore, this raises more questions about the origin of endometriosis. The accumulating evidence suggests that endometriosis is a dormant developmental disorder; something with which you are born that becomes active around the time of puberty. How, when and why the symptoms associated with endo come into being is another matter altogether. How endometriosis arises during development is another big question. Displacement of stem cells? Abnormal growth of portions of the reproductive organs? Early menstrual influences before birth? Yes, you read that last part right. The uterus of new-born females is capable of undergoing something akin to menstrual changes and menstruation. Of the very few studies that have looked into this, the general finding was that visible bleeding was observed in around 5% of new-born females, caused by exposure to, and withdrawal from, the mothers hormones. This may lead to a sort of prenatal retrograde menstruation of endometrial cells, planting the seeds of endometriosis in the pelvis before birth. Of course, there are still many stumbling blocks to overcome before any theory on the origin of endometriosis is widely accepted, some of which I’ve touched upon previously


Title from Thomas Hardy’s poem ‘How Great my Grief’
 

Thursday, 1 December 2011

Endometriosis in an 18 month old infant

This month appears to be the month for rarities, a few days ago I was reporting on the case of endometriosis in a man and just today a case report from Hong Kong was published on something even rarer, ovarian endometriosis in an 18 month old girl. This alone would be enough to raise an eyebrow, but what made both my eyebrows almost fly off my forehead was that this girl also had an endometriosis-associated ovarian tumour.

It has been known for ovarian endometriosis to be associated with an increase risk of developing tumours of the ovary, but this in itself is a rare event and to find this occurring in an infant means the odds of this occurring must be astronomical.

This isn’t the first case of endometriosis in a pre-pubertal girl I’ve heard of; there have been documented occurrences of endometriosis in girls aged as young as 8 years old and I’ve wrote about several publications from Italy concerning the discovery of endometriotic tissue in unborn human foetuses. But ovarian endometriosis associated with ovarian tumours is something which is more often reported in older women with advanced stage endometriosis.

So it concerns me greatly how this could have occurred in an 18 month old infant. The authors of the case report state that the girl’s hormone levels were normal for someone he age and there was no evidence of precocious puberty or genital abnormality. Perhaps this girl had a particularly disproportionate genetic or epigenetic susceptibility to endometriosis, in which case further investigation along this line may answer some of our most long standing questions about which genes (or gene variants) make someone more at risk of developing endometriosis.

It could be hat this girl had been exposed to high concentrations of some environmental pollutant, either whilst still in the womb or during early development which triggered onset of the disease. Hong Kong is a heavily industrialised urban area with a serious pollution problem, so exposure to pollutants could be a contributor to this rare occurrence; it really is very hard to draw any definite conclusions though.

Whatever the cause of this particularly peculiar event, it highlights how little we know for certain about endometriosis. With the growing body of research on the disease, scientists involved in endometriosis need to take a step back and have a long hard look at the current state of our understanding because, personally, I think a radical shift in our thinking is needed.