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Delayed puberty ignored

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The twins were delivered seven weeks early, but were well enough to leave the hospital two weeks after their birth. The girl, older by one minute, had developed normally. The boy had congenital sensorineural deafness (non-familial), but this did not prevent him from doing so well in school that he is scheduled to enter a prestigious college in the fall.

At age 19 years he came to the clinic for evaluation of delayed puberty. He had recently been seen by a urologist who documented that the left testis was small and that the right testis had apparently never descended into the scrotum. Ultrasound confirmed the absence of the right testis from the scrotum and laboratory studies confirmed hypogonadotrophic hypogonadism (very low levels of gonadotrophins, testosterone, and prolactin-thyroid and adrenal lab studies had not yet been performed). At age 16 years a comment had been made about the lack of pubertal development but it appears that there was no follow up for this.

What now?

There are several issues that need to be addressed critically and with college starting several hundred miles away in 10 weeks, careful, multi-disciplinary management is needed.

1. An undescended testis is at increased risk for testicular carcinoma and appropriate imaging studies need to be performed followed by orchiectomy if it can be located.
2. The thyroid and adrenal axes need to be evaluated; by history and examination things seemed okay.
3. An MRI of the pituitary and hypothalamic area needs to be obtained.
4. Bone age needs to be determined.
5. Hormonal therapy needs to be carefully assessed. If bone age is delayed, as is most likely, growth hormone therapy might take precedence over testosterone replacement. Growth hormone therapy is now approved for use in young patients with short stature even if the growth hormone response to stimulation is normal. Since testing for growth hormone deficiency is cumbersome, I would be satisfied to recommend this therapy in advance of testosterone replacement if there is significant delay in bone age. Starting with testosterone would accelerate skeletal growth and epiphyseal closure.

Growth retardation can be detected as early as the annual physical examination data indicates that the rate of growth is deviating from the standard growth curves. How disappointing that this has been missed for so long in this young man!