Friday, December 11, 2009

Cheers to the coming freezing days.

A disease I came across during Pediatrics. A very interesting one indeed.


Adreno-genital Syndrome

An 8-year-old male child presented with fever. On routine examination it was observed
that there was bilateral cryptorchidism and presence of pubic hair corresponding to SMR
stage 3. The scrotum was well developed and the penis was small (with no prepuce) with an urethral opening at its tip (Fig. 1). There was generalized hyper-pigmentation and presence
of acne. These findings prompted investigation for ambiguous genitalia. Abdominal CT
scan revealed presence of uterus and its adenexa and bilateral adrenal enlargement.
Karotyping revealed 46-XX genotype. The serum 17-hydroxyprogesterone (17-OHP)
level was 2.8 ng/mL (normal: 0.2-0.5 ng/mL) and urinary 17-ketosteroids was 18 mg/d
(normal: 1-4 mg/d). The clinical findings and investigations suggested the diagnosis
of a female pseudohermaphrodite due to congenital adrenal hyperplasia resulting
in adreno-genital syndrome. The family preferred to continue to rear the child as a
male and therefore no treatment was offered. Congenital adrenal hyperplasia is the most
common cause of female pseudohermaphroditism. It can rarely be a result of
virilizing adrenocortical tumors. 21-hydroxylase deficiency is the commonest cause of
congenital adrenal hyperplasia, followed by 11b-hydroxylase deficiency. The clitoris may
be enlarged to resemble a penis and labial fusion can resemble a scrotum, as the present
case. The severity of virilization is greatest in salt losers. These children have premature
development of pubic and axillary hair, acne, masculine voice and build. Children with 11bhydroxylase deficiency in addition are often hypertensive and may have gynecomastia.
Female pseudohermaphrodites due to CAH can be distinguished from those due to other
causes by the elevated levels of serum 17- OHP and urinary 17-ketosteroids. Antenatal
diagnosis is possible by detecting elevated 17-OHP in the amniotic fluid. The sex of rearing
depends on the extent of virilization. If the family wishes to rear as females then
appropriate surgical and endocrinal therapywill have to instituted.

***

Winter has finally showed its true colors. Temperature down to -10celcius most of the time. Freezing cold. That's why I decided to warm myself up with some tropical pictures I took over last summer. Lol. You guys are probably sick and tired of them, but not me! =P






Suntanning




I looked back, and I saw nothing.

 

 Hands in pockets.



Culture.
 

Spectators.

 

An auspicious event that brings 2 souls together.
 

White and pure.

 

Into the sea I go.
 

Let's fly kite.
 

Batik.
 

Playing sand.

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