Expert: Dana Krempels, Ph.D. - 6/13/2010

Question
My son recently turned 16 and there are no signs of puberty. He is growing at his usual rate, but no major growth spurts. His voice is still prepubescent and hasn't dropped yet. He doesn't have any underarm hair or facial hair. The last time we went to the doctor, about 6 months ago, my doctor said that his penis was a little off from 3 inches and that his testes were 6 ml. My husband started puberty when he was 14 and my 19-year-old started just before he was 14. What should we do for our son?

Answer
Dear Karrie,

There are many possible reasons for this, including Klinefelter Syndrome (XXY genotype, which will delay puberty, but not prevent it altogether), Androgen Insensitivity Syndrome (AIS), 5-AR Deficiency, or any number of endocrine disorders.  While some boys have delayed puberty, it is certainly not normal for his testicles to have failed to descend by this age, since they should already be in the scrotum at birth.  If your family practitioner has not even mentioned this after all these years, then I fear s/he has not been providing proper medical care.   Cryptorchidism (undescended testicles) are an abnormal and potentially dangerous problem that should be corrected as soon as possible, once diagnosed.

I believe that it's time for your general practice physician/family physician to refer you and your son to an endocrinologist who can do the proper diagnostic tests to determine the source of the problem.  If it is genetic, then there may be hormone therapies to help rectify the situation.  If it is an endocrine problem, the specialist will know the appropriate treatments.

Please do this as soon as possible.  Cryptorchids (undescended testicles) can become cancerous over time, and the sooner this situation is corrected, the better your son's overall health will be.

I hope this helps.

Dana