USMLE Forum Archives - USMLE Step 3 - Baby with ambigious genetelia
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#1
Re: Baby with ambigious genetelia
conym5 - 06-22-09 07:47 ambigious genetelia.. many diseases can cause this: CAH, Klinefelter's syndrome, Turner's syndrome , but CAH is the most frequent cause of ambiguous genitalia in the newborn, constituting approximately 60% of all cases. Mx depends on etiology.
1.In all cases of ambiguous genitalia, to establish most probable cause, do a complete history and physical. The physical must include careful evaluation of the gonads and the internal as well as external genital structures. Genetic and endocrine evaluations are usually needed and interpretation can require the assistance of a pediatric endocrinologist, radiologist and urologist. Pelvic ultrasonography and genitography may be required. Do not hesitate to seek expert help; a team effort is best. The history must include assessment of immediate and extended family. Be rapid in this decision making but take as much time as needed
2.Insure that the parents understand this condition is a natural variety of intersex that is uncommon or rare but not unheard of.
3.The sex of assignment, when based on the nature of the diagnosis rather than only considering the size of functionality of the phallus, respects the idea that the nervous system involved in adult sexuality has been influenced by genetic and endocrine events that will most likely become manifest with or after puberty. In the majority of cases this sex of assignment will indeed be in concert with the appearance of the genitalia.For those individuals with mixed gonadal dysgenesis assign male or female dependent upon the size of the phallus and extent of the labia/scrotum fusion.
4.The initial stabilization of infants with a DSD requires attention to both medical and psychosocial issues. The urgent medical issue is the possibility of adrenal crisis in infants with the salt-wasting form of congenital adrenal hyperplasia
5.Perform no major surgery for cosmetic reasons only; only for conditions related to physical/medical health.
6.Maintain contact with family so that counsel is available particularly at crucial times
7.As the child matures there must be opportunity for private counseling sessions.Counseling must include developmental sequelae to be anticipated
8.As puberty approaches be open and honest with the endocrine and surgical options and life choices available.
9.Most individuals are convinced by the age of 10-15 as to direction that would be most suitable for them
10.Most intersex conditions can remain without any surgery at all.
11.If a gender change is being considered, have the individual experience a real-life living test . In this way the individual will have first hand experiences in how it actually is to live in the other role.
#3
Re: Baby with ambigious genetelia conym5 - 06-22-09 08:06 yeah.. actually we need all this info for step3 ccs also
#4
Re: Baby with ambigious genetelia meduploader - 06-22-09 15:21 Thanx for the such a comprehensive answer.
#5
Re: Baby with ambigious genetelia
zkadhem - 06-22-09 20:14 ok,
So in summary there is many issues but he important one is the acute issues. So take blood samples to
check for electrolytes specially the Na & k plus the usrea and creatining.Those infants who have CAH are more prone to salt losing nephropathy. Then check the blood pressure.
Then after stabilization of the baby you will take care of the sex assignment and you go for a battery of tests like :
Abd U/s TO LOOK FOR ANY TESTES/OVARY PLUS TO SEE IF THERE IS ANY UTERUS .
Involve agenetist and an endocrinologist.
You will need caryotyping also.
I'm talking from step 3 point of view....
If you have any further important tests please add them.
Regards.
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