sprint123
Forum Guru
Topics: 129
Posts: 870
|
A 7 year old boy c/o sudden acceleration of growth. On Examination, Severe acne on face and there are enlarged testicles and penis with coarse pubic and axillary hair. What is the diagnosis?
A.21 alpha OH deficiency
B.Klinefelter
C.Hypothalamic tumor
D.XYY syndrome
Please explain
|
| Luckyall
Forum Guru
Topics: 11
Posts: 593
|
i think NOT klinefelter bc they would ve said somethg about atrophy semin. tubules, long arms, gynecomastia, lower IQ..
i think is NOT 47,XXY either---> they will mention incr stature, mild decr IQ& susceptibility to impulsive behaviour
im oscilating btw A and C---> in 21OH-lase defic.( MCC of CAH) signs seen from infancy
Hypothal tumor--> palsy of CNs, probl in abduction of eyes, Upper extrem coordination probl, maybe gait problems
My answer is A) 21 OH-lase defic
|
| sprint123
Forum Guru
Topics: 129
Posts: 870
|
Hi lucky all..Hypothalamic tumor can present without the above mentioned symptoms---With ONLY endocrine abnormality like this...Do you want to comment or change your answer?
I am confused between hypothalamus and 21 OH deficiency?!
Any inputs!
|
| Luckyall
Forum Guru
Topics: 11
Posts: 593
|
http://en.wikipedia.org/wiki/Precocious_puberty check this out...
Should be clear now
1)"sudden acceleration of growth"
2)peripheral precocious puberty
|
| new_n_lost
Politically InCorrect
Topics: 653
Posts: 6,076
|
If u r looking at the presentation then Children with Less Severe 21 Hydroxylase Deficiency present with the same issues. They will have growth spurt which will be of pubertal type but they will also have a marked degree of electrolyte imbalance which can be presented with CAH. Normally pts with mild form of CAH present to the Physician during an acute illness and the observations r made.
A Hypothalamic Tumor can also present with such features.
My Guess is that the 2 can be differentiated on the basis of Hyperpigmentation cos it will occur in CAH.
But the Question doesnt mention anything as such So i will go with the more common Disease CAH
___________________
FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
|
| silver
Forum Guru
Topics: 21
Posts: 773
|
A.21 alpha OH deficiency
Simple virilizing adrenal hyperplasia.
Children with less severe deficiencies of 21-hydroxylase present later in childhood because of the early development of pubic hair, phallic enlargement accompanied by accelerated linear growth and advancement of skeletal maturation.
___________________
Every disaster hides an opportunity.
|
| sprint123
Forum Guru
Topics: 129
Posts: 870
|
Thanks guys!! Kaplan Qbook says - A male child with virilsation symptoms --Lokk for Testicular size. It argues that if the size is small then it is due to adrenal androgens since it would suppress the normal gnrh secretion thereby inhibiting the growth of testes but produces peripheral symptoms.
If the testicular size is enlarged, then it is due to hypothalamic hamartoma since the testes is directly under the influence of increased Gnrh secretion.
Any comments on this one!
|
| whiterabbit
|
A
|
| Luckyall
Forum Guru
Topics: 11
Posts: 593
|
Sprint, can you, plz, tell me what Qs number is this ? and wht section on Q book ? Peds or IM? i wanna look this up .
Thanks!
|
|
| |
| | | | | | | | | |
