Monday, 21 November 2011

Urogenital sinus

Adrenogenital syndrome showing masculinization of the lower urogenital tract as seen on VCUG.

Urogenital sinus, the most common appearance of the lower urogenital tract in adrenogenital syndrome. A well-developed vagina with a well-defined impression of the uterine cervix on the vaginal vault (arrow) joins the distal end of the urethra to form a long common sinus tract (urogenital sinus) that ends in the perineum at the base of a prominent phallus. Barium paste was applied on the perineum to show the distance between the vagina and perineum.


Might explain a few things. Anomalous events when I was 14. Or might not - the ultrasounds are invonclusive.


Anonymous said...

Adrenogenital syndrome is old world name for CAH. Most of us with CAH have 21-hydroxylase variant in varying degrees of severity. But there are MUCH rarer variants. It sure explains a lot of stuff... once you know. It all comes down to what, if anything you were told. I never was. Standard practice for the time. The thing is, sometimes there isn't any explanation. The human condition is a long way from the binary we are taught at school. It as wide and varied as there are people in the world. The difficulties arise when others are unable to accept our differences.


Anonymous said...

Don't people with CAH have to remain on medicine for the whole lives? Has Zoe been on medicine her whole life?

Anonymous said...

I will speak of which I know, which is CAH. There are degrees of 'severity', even within 21-hydroxylase diagnoses, which is the most commonly diagnosed variation - although as I have said, there other rarer variants. Some are mild to the point of needing little or no medication. Others, such as myself, are unable to synthesise aldosterone and must replace this as well as 'manage' our lack of cortisol production. The degree of endocrine severity is most often indicated by the degree of 'virilisation' observable at birth. And that folks, is a whole parallel universe you are truly fortunate never to have inhabited.

If you are properly interested, rather than just prurient and voyeuristic, then read "Fixing Sex by Katrina Karkazis. Then you might begin to understand. Maybe.


Zoe Brain said...

I appear to have the late-onset non-salt-wasting 3-beta-hydroxysteroid-dehydrogenase deficient form of CAH. The mildest form of it, only some of my cells are affected.

As long as I take statins (to reduce excess LDL), progesterone, LOTS of estrogen, and supress the feedback mechanisms so there's adequate aromatisation to all the other things - cortisol, mineralicorticoids etc - I'm fine.

See this post for a helpful diagram on what gets changed to what. 3BHD is the "first rung" on the ladder, if that's deficient, the entire endocrine system is affected, not just parts. Cholesterol accumulates to dangerous levels, amongst other things.

3BHDD can cause pretty much anything to happen, effects are very variable - masculinisation of a female, feminisation of a male, but often the really nasty stuff, the cortisol and mineralocorticoid deficiencies are too far "downstream" to be badly affected.

Wiki's not too inaccurate on it.
Here's what it says on 3BHDD:
There is a wide spectrum of clinical presentations of 3βHSD CAH, from mild to severe forms. The uncommon severe form results from a complete loss of enzymatic activity and manifests itself in infancy as salt wasting due to the loss of mineralocorticoids. Milder forms resulting from incomplete loss of 3βHSD type II function do not present with adrenal crisis, but can still produce virilization of genetically female infants and undervirilization of genetically male infants. As a result, this form of primary hypoadrenalism is the only form of CAH that can cause ambiguous genitalia in both genetic sexes.

Since mine is late-onset, while there were some pre-natal effects, most are post-natal.

My sympathies to Noodles. It's not fun, and if I let my levels get too low, bad stuff (tm) starts happening. Starting with my skin falling off, so I need corticosteroids to stop that. But no adrenal crises, nothing life-threatening.

Zoe Brain said...

In hindsight, this should have been diagnosed earlier. I have the classic "tallest kid in the class at 7, shortest at 14" syndrome, the torso of someone nearly 6 ft tall, but short legs due to premature closing of bone ends. My wingspan greatly exceeds my height, 4 standard deviations from the norm there. Pectus Carinatum too.

Lots and lots of "tells" of CAH, starting with the obvious "large and funny-shaped" adrenals visible on ultrasounds.

While the diagnosis has yet to be confirmed, it's now looking pretty certain. The usual gene tests won't detect the mildest form, the diagnosis has to be based on symptoms.

Here's wiki on the 21-hydroxylase form - and with the 3BHD form, mild symptoms of any of the other forms can happen:
While a boy (or girl) with simple virilizing CAH is taller than peers at that point, he will have far fewer years remaining to grow, and may go from being a very tall 7-year-old to a 62-inch 13-year-old who has completed growth.

My sister and niece had the same thing. My niece also has severe endocrine issues. My son had to have genital reconstruction due to moderate hypospadias but very severe and painful chordee.

He's the tallest kid in his class at 10.

So genetically, while there are some advantages for the species of having a few people like me around, on a personal level it kinda sucks.

Worse for those with 21-OH though, I think. If they live.

Noodles? *HUG* Ok? I've just got a taste of your situation. Enough to Grok it in Fullness.

And no, I was told nothing. Not even what was removed from my abdomen at age 20. You don't get a scar from bikini line to breastbone just from having your gallbladder out - though that was removed too, the ultrasounds show that clearly. Just other scar tissue where no scar tissue should be as well.

Anonymous said...

Zoe. Stay with it. Keep doing what you do. You have been gifted with an extraordinary ability to reach across an amazing breadth of interests that speak to folk all over the place.

As for me. The good bits outnumber the bad stuff these days. Can't say the same for when I was younger tho' ... hey ho!

It will all fall into place, believe me. Never let up.

Big *HUG*. Always.