Question

David, a 21-year-old male, demonstrated the following:

Poor muscle development, high-pitched voice, microphallis, eunuchoidism, anosmia, tall stature (6'7")

Upon further questioning, it was found that David was born with a cleft palate, only one kidney and cryptorchidism.
A blood sample revealed low serum levels of FSH, LH and Testosterone.

2. What secondary sex characteristics is David lacking?

3. Name the endocrine disorder (be specific) in this case. Is this a primary or secondary disorder?
4. Diagram the feedback loop involved.
5. Why is David suffering from anosmia?
6. How can David's tall stature be explained?
7. Can his condition be treated? If so, how?
8. Will he be able to father children if left untreated? Why or why not?
9. Is this disorder genetic? If so, which chromosome is affected? Is this always the case?

Answer 1

2) as David is 21 yrs now he must have secondary sexual characters specific to males like deep voice, increase in size o testes, ..etc ... And as information given by David he is having high pitch voice and cryptorchidism(testes doesn't move down into the sac), poor muscle development, microphallis(small size penis), enuchoidism so most of the characters are not present in David

3) seeing all the above symptoms he is having kallman syndrome

5) anomia is the loss of sense of smell this is the distinguish feature for kallman syndrome.

In this syndrome the genes which are responsible for development of the nerve cells in the brain which are responsible for the formation of the olfactory bulb in the future are not synthesised properly.

8) he is having low testosterone and also microphallis and cryptorchidism so it is not possible to have children

9) yes it is genetic in this disorder more than 20 chromosomes are affected some are ANOS1, CHD7, FGF8...