Question Title: Child with Cloac Extrophi?

Posted by Thomas on May 21, 1999 at 15:16:07

My wife is pregnant and she is 23 weeks into her pregnacy with a boy, we have just been told that our child may be born with something extremely seldom which the specialists refer to as "cloac extrophi". My question to the group is: what is really cloac extrophi and how may this affect our child?
We have been told that one alternative is to alter the sex!
My wife is pregnant with a boy, and the doctors say that they have to change it into a girl!
How may this become, will "she" for instance need hormons as a teen-ager, will she be a "natural" girl in appearance etc..?
I hope somebody can answer these question.
Thanx!

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Posted by HFHS M.D.-BE on June 07, 1999 at 08:10:46

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Dear Thomas,
Cloacal extrophy is an exceedingly rare and severe congenital abnormality that occurs in approximately one in 200,000 to 400,000 live births. The sex ratio is 2 males to 1 female. No known inheritance pattern is known. It is rather difficult to explain in every day English without any illustrations or drawings, but I will try :
In the complete form of condition, the large bowel is shortened to varying degrees and not fully developed, and it sticks out of the abdominal wall ( or in other words extrophied) in the middle. This is in turn flanked on each side by the extrophied bladder halves, which form in two separate halves both of which have an associated opening from the ureters ( the tubes that are connected to each kidney and drain the urine into the bladder). Furthermore, the penis forms in two separate, small right and left halves, each of which tend to be under where the half bladders are located. Testicles and half scrotum pieces are associated with each half penis. The testicles may or may not be descended. There is no anus present in these patients. Other possible associated abnormalities include ureter and kidney abnormalities, as well as gastrointestinal, musculoskeletal( specifically pelvic bone), and nervous system abnormalities.As a result, the affected individual requires major surgical reconstruction to restore some form of normal appearance and function, in spite of which, some degree of functional disadvantages will always exist, for bladder and bowel and possibly the ability to ambulate, to name a few.

As far as alteration of the sex or what we refer to as gender reassignment, it used to be thought that changing all cloacal extrophy patients to female gender was the more appropriate approach. Today, however, most experts agree that a given patient thrives more if left with the genetically assigned form .

This may be a profound problem, and you need to discuss it with your pediatrician, gynecologist and urologist in detail, so you are aware of all aspects of what to expect in the long run. I wish you and your wife the best in this endeavor. Sometimes an incomplete form of the syndrome presents with less severe deformity.

This information is provided for general medical educational purposes only. Please consult your physician for diagnostic and treatment options pertaining to your specific medical condition. More individualized care is available at the Henry Ford Hospital and its satellites (1 800 653-6568).

Sincerely,
HFHS M.D.-BE
*keyword: cloacal extrophy

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