The Smallest Kid in School: Evaluating Delayed Puberty

Peter A. Lee, MD, PhD; Christopher P. Houk, MD


August 13, 2012

Back to the Case

The boy with small testes, prepubertal genitalia, midline facial defects, and anosmia discussed earlier was diagnosed with hypogonadotropic hypogonadism. He responded well to testosterone replacement therapy and reached full male maturation, except for small testes.

His teenage years were difficult and were complicated by his social situation, which included placement as a foster child. Shortly after he was begun on testosterone therapy, a foster parent accused him of sexual abuse of her prepubertal daughter, on the assumption that this low-dose replacement therapy stimulated uncontrollable sexual acting out. The boy was subsequently adopted and provided with opportunities to share his life experiences in support groups with positive feedback.

No mutation, including on KAL1 and KAL2 testing, was found to explain his diagnosis. Because of a keen desire to eventually have a child, he was given a combination of hCG/hMG for several months during his teen years, which resulted in some testicular growth but without seminal sperm. Further attempts to achieve fertility were deferred until he was ready to attempt paternity.

He later met and married a healthy woman who had 2 children. For several years, he and his wife attempted to have a child through use of prolonged treatment including GnRH pulsatile therapy. After numerous years without success, it was concluded that he would be biologically unable to father a child. He and his wife then decided to use donated sperm and now have a healthy 4-year-old daughter.

From the time of his diagnosis onward, the patient accepted his situation and made a commendable effort to have a good quality of life, regardless of the problems his situation has presented.