hello, katz (german cat)
Thank you for your response and hopefully there will be more people interested in and join the discussion.
Ok back to the comments,
I will need to make a clearer explanation here as for the benefit of medical student.
First, approach to tall stature, you already mention about familial tall stature which is not be the case. That is good to mention.
About the body proportion, arm span exceeds hight 5 cm and U/L body ratio is less than 1 means legs are long. These comprise to the definition of Eunuchoid body habitus suggesting hypogonadism which has the prepuberty onset as the cause of the tall stature. Reliability of the measurement is not the factor usually concerned by CPC protocol and actually in this case, there is no any contradiction by the information given. If arm spans are much exceed the hieght or U/L ratio is markedly low, it will suggest connective tissue disorder or some metabolic syndrome including: Marfan, Loeys-Dietz, homocystinuria, etc. If the proportion is as adult that is nearly 1, it will point the patient to other problem such as somatic gigantism, hyperthyroidism, etc. BEWARE connective tissue disorders have variable expression; slightly long arms, long legs, history of herniorrhaphy might be the clues?
This will start kicking off that patient should have hypogonadism.
The hormonal profile confirms the finding that the patient has hypogonadism but the gonadotropin is low while the testis, the final organ is small which is now in contradiction. Patient actually has hypergonadotropin hypogonadism or gonadal cause or hypogonadotropic hypogonadism which is the central one. This is the interesting point of discussion.
Isolated central hypogonadism or Kallman (with other abnormalities including olfactory involvement) or panhypopituitary problems is one thing and acquired hypergonadotropic hypogonadism (eg. mumps, injury, etc.) and congenital problem such as chromosomal disorders are the other line. Or actually patients has two problems.
As the result of other pituitary hormonal tests and the occurrence of central DI lead us to think about central cause of hypogonadism, whereas history of mumps and the testicular examination point us to end organ cause. Eunochoid which show the prepubertal problem and the late onset of DI can be put in the account that patients has the problem before the onset of puberty.
Gynaecomastia is the evidence that might be helpful. In phenotypic male with hypogenitalia and gynaecomastia warrant the chromosome check. Patient has gynaecomastia krub. Partial androgen insensitivity may be in the differential diagnosis, but the hormonal profile is not typical for both cases (klinefelter or Partial androgen insen.) . Voice pitch shows some androgen effect though. Anyway, male hypogonadism might have gynaecomastia. So it is not an important clue in differntial diagnosis of hypogonnadism. Peripheral tissue conversion of steroid in fat to estrogen still be in action.
It has been felt that you are still not clear about the difference between intellectual problem and learning difficulty. They are not the same as the latter can be caused by various problems including developmnetal, rearing, intellectual problems, chronic illness, social opportunities. So I insisted that it is inappropriate to label this patient with intellectual problem krub. This is quite important in terms of long term care of patients. In case of klinefelter, there is wide range of intellectual abilities from a bit low than normal to well above average, so it is not the factor point to Klinefelter syndrome as well. It should be make a notice that patient has learning problem that might be worth to search for the causes krub.
ANd in case of tumor, as you mihgt see that the prevalence of extra..
