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To determine the benefit of collecting two routine specimens to test for congenital hypothyroidism, we examined the results of our newborn screening program during the last 9.5 years. The Northwest Regional Screening Program (NWRSP) performs a primary thyroxine test with thyroid-stimulating hormone determinations on the lowest 10% of dried blood filter paper specimens. An initial specimen is obtained in the newborn period, and a routine second specimen is collected at approximately 4 to 6 weeks of age in all infants born in Oregon and 25% of infants born in Idaho, Montana, Alaska, and Nevada. Between May 1975 and October 1984, 182 infants with primary hypothyroidism were detected from 811,917 infants screened, a prevalence rate of 1:4,461. The routine second specimen led to the diagnosis of 19 infants of 484,604 infants screened, a detection rate of 1:25,505. When infants detected by the second screen were compared with those detected by the first screen, they had higher thyroxine and lower thyroidstimulating hormone concentrations on filter paper and serum specimens. When thyroid scanning was used, all but one infant detected by the second screen had some residual thyroid tissue, whereas 35% of infants detected by the first screen had thyroid aplasia. Skeletal maturation was more likely to be normal in infants detected by the second screen. These infants appear to have milder hypothyroidism due to a later age of onset or slower evolution of thyroid failure. At a cost of $31,881 per infant detected by the second screen, the NWRSP found it cost-effective to obtain a routine second specimen.

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 hypothalamicpituitary axis either idiopathic or secondary to an intracranial tumor as the etiology of delayed puberty.