Etiology of Delayed Puberty in 146 Children Evaluated Over a 10 Year Period

To determine the etiology of delayed puberty in a referral population, we analyzed the clinical features and endocrine studies in 146 children seen between 1975 and 1985 whose pubertal onset was greater than 2 SD from the mean. Patients fell into 5 major categories: constitutional pubertal delay (46%), central nervous system problems resulting in hypothalamic-pituitary deficits (32%), primary gonadal failure (9%), underlying systemic disease (9%), and anatomic genitourinary tract anomalies (1.3%). Short stature was the most common presenting complaint both alone and as one of several complaints (84%), whereas delayed puberty as a single or one of several complaints was recognized in slightly less than half (43%) of our patients. Patients tended to be short, have a slow growth rate, eunuchoid body proportions and have a delayed bone age compared to means for chronologic age; these parameters corresponded better with means for bone age. Laboratory tests identified those with pituitary deficits and gonadal failure, but studies generally could not distinguish marked constitutional delay from isolated gonadotropin deficiency. Unlike previous surveys, most of our patients had constitutional delay often associated with a family history of delay, or an abnormality of the hypothalamic-pituitary axis either idiopathic or secondary to an intracranial tumor as the etiology of delayed puberty.