My 14 yr. old son is being referred to a pediatric endocrinologist for the following reasons:
-no sign of puberty, -cannot gain weight and extremely thin (BMI is at 3%), -only grew 1 inch in a year's time, -ongoing fatigue problem.
I am curious as to what tests he will undergo in the initial visit(s).
You are being seen by the endocrinologist for some very good reasons. Firstly the lack of weight gain may contribute to the lack of growth and the slow tempo of puberty. So if I were to see him a thorough history and physical including labs depending on my findings which might include looking at reasons for the weight problem and slow growth. This includes a complete blood count to assess for anemia, a cmp or comprehensive metabolic profile, this looks at liver function and a little of renal function. I would get a baseline level of somatomedin C which is the hormone that growth hormone from the brain tells the liver to make and the two work at the growth plate to elongate the bones.
Also I would check thyroid functions and celiac antibodies to see if he is not gaining weight due to abnormal metabolism or celiac disease which is a gluten allergy (wheat).
Also this sound crazy but depending on my exam I might check his karyotype or genetic testing to assess his male genes to be sure he has the right software dictating his growth. An xray of his left hand will assess how much growth is left in his bones.
These are the things that come to mind, also a urine dip to see if his kidneys are working well.
Keep us informed. There is a rare but important problem called Kallman's syndrome, this is a genetic disorder that demonstrates with delayed puberty, short stature and an unusual but important lack of sense of smell (the nerve is right around the pituitary and the gene affects all of these factors).
Hope this helps.
Thank you for the very informative answer. I have a follow up question. I do not have any medical information of my biological family (I am the mother of 14 yr. old). I was adopted at birth. Is this a big problem with the genetic testing?
Since I posted my question, I heard from his Doctor. We go on Monday to the endocrinologist.Hurray for a short wait! Also, celiac disease was ruled out last year. In your opinion will the first visit be more than one day? (going to Mayo clinic)
Not to worry, as long as we know your history that is better than nothing. This is not a problem with genetic testing, he is the only one that will be tested unless they find something news worthy :)
I am amazed by how quickly you got an appt. Mayo Clinic is a terrific institution.
No, the first visit should be a thorough history and physical, being Mayo you may have a resident, med student, nursing student and fellow all see you along with the doc and that is great cause more than one great mind will be thinking about your child for the price of one. Update us on their evaluation, I am betting that he ends up on growth hormone and if so he will grow promise!
We had the appt. at Mayo. The frustrating part has been waiting for the results of the testing. I still don't have a letter from the Dr., but called today. What I do know is that his bone age was 12 yrs. 6 mths. All of his labs looked "excellent". Termed constitutional delay. Recommended to wait 6 mths for another evaluation, but no intervention now. Do you think that the 6 mth. interval is OK?
Is it a side effect of testosterone shots to slow or stop growth potential? We have been advised to wait until his bone age increases.
We have growing concern about him entering high school this fall. His younger brother (by 2 years) shows signs of puberty.
At age 14 with a bone age of 12 yrs 6 months this is good news, you have time and he has room to keep growing beyond his colleagues, waiting is fine and nothing is going to happen in 6 months that waiting will hurt. Testosterone in high levels can convert to estrogen which is the main hormone that fuses the growth plate, however, in low levels like low dose once a month for a few months may be what is needed to get the body going at a normal(not advanced) rate and help along his own growth hormone.
This is an option and is not harmful when used in the right scenario. I would wait.
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