EXTENSIVE PERSONAL EXPERIENCE Delayed Puberty*

Patients with delayed puberty are frequent referrals to family practitioners, pediatricians, and endocrinologists. The problem, of course, is almost always not just a delay in the appearance or progression of secondary sexual characteristics, but also of stature. In fact, a large proportion of short stature referrals are boys in the peri-pubertal age group who sense their difference from peers both in height and in sexual maturity. While the majority of patients are boys, female referrals are still common, and gonadal dysgenesis variants must be assiduously pursued. The clinical approach to these children has become increasingly complex as the diagnosis and treatment of short stature patients has evolved over the past few years. Unfortunately, the success of our diagnostic armamentaria has been disappointing in many cases, based on arbitrary cut-off points for dynamic growth hormone testing or integrated hormone concentrations. Additionally confounding is a physiological slow down in the growth rate of many boys just before the pubertal spurt. To add to the dilemma, many time-honored, diagnostic categories have been threatened. We realize, increasingly, that many patients who are not growing well may have multifactorial origins, including intrauterine cause, a familial / genetic base, constitutional elements, nutritional origins, or behavioral components. Idiopathic short stature, surprisingly, is recent terminology, expressing diagnostic frustration and limitations in detecting partial growth hormone deficiency or defective growth hormone action, or other unclear causation. Into this mix enter many patients with pubertal delay as assessed by our relatively firm knowledge of the appearance and progression of physical changes in the second decade of life. The diagnostic approach to and the biological origins of such individuals have been well described in textbooks and journal articles. The paradigms of hypoand hypergonadotropic hypogonadism are clearly defined and still serve the clinician well. There is usually little diagnostic confusion