Ascertainment of 21-hydroxylase deficiency in individuals with HLA-B14 haplotype.

21-Hydroxylase activity was measured in North American caucasian individuals with the HLA-B14 antigen to estimate the frequency of heterozygosity for the attenuated congenital adrenal hyperplasia trait. A 30-min iv ACTH stimulation test was administered to 9 normal HLA-B14-positive subjects and to a comparable HLA-B14-negative control group. Changes in plasma progesterone and 17-hydroxyprogesterone over 30 min were summed and expressed as a combined rate of rise. Six of 9 HLA-B14-positive individuals had a rate of rise greater than 2 SD above the mean control value. On this basis, about two thirds of B-14-positive individuals are heterozygote carriers for 21-hydroxylase deficiency. Thus, the frequency of the attenuated form of congenital adrenal hyperplasia linked to the HLA-B14 locus in women is approximately 1 in 6000 if there is only 1 B14, and 1 in 2000 if there are 2 B14s in the HLA type.

Long-term follow-up of hypopituitary patients treated with human growth hormone.

Thirty-six former human growth hormone (hGH) recipients underwent comprehensive physical, endocrine and lipoprotein evaluations as adults. Treatment was associated with a decrease in height standard deviation score (SDS) in males from 4.0 pretreatment to 2.1 as adults, and in females from 4.2 to 2.5. Males showed a better growth response to treatment than did females. Plasma somatomedin-C levels were subnormal in 30 patients, but were higher in isolated growth-hormone-deficient patients than in others. Three men and 1 woman showed evidence suggesting a disturbance in pulsatile gonadotropin release despite the previous documentation of normal serum gonadotropin levels. Hypertriglyceridemia was not observed, and the women's plasma cholesterol levels were unremarkable. Men, however, showed higher-than-expected total cholesterol, LDL-cholesterol, and HDL-cholesterol concentrations. The last finding may explain the lack of increased cardiovascular morbidity in this group.

Childhood burns reconsidered: the child, the family, and the burn injury.

The psychosocial characteristics of 100 burned children and their families were assessed along with characteristics of the burn event and injury. The findings were compared to other studies of burned children from Australia, Great Britain, and the United States to identify patterns of childhood burn injury. It is concluded that children most at risk for burns are very young and male. Often they are the younger or youngest child in a larger-than-expected family. They tend to come from single-parent and economically disadvantaged households. Moreover, burned children frequently have psychological handicaps and a history of previous burns. These findings and others were used to identify subgroups of children most at risk for burn injury and the most common precipitating events. The importance of prevention of these injuries for professionals dealing with such children is emphasized.

Adrenal and testicular function in 14 patients with adrenoleukodystrophy or adrenomyeloneuropathy.

Testicular and adrenal function were evaluated in 12 patients with adrenoleukodystrophy and 2 patients with adrenomyeloneuropathy. Although only 5 subjects had clinical symptoms suggesting adrenal insufficiency, an additional 5 showed laboratory evidence of reduced adrenal reserve. 9 of the 14 patients developed neurological deficits prior to the onset of clinical or biological adrenal insufficiency. In the remaining 5 patients, adrenal insufficiency antedated the appearance of neurological symptoms; 2 of these 5 patients had only laboratory evidence of hypoadrenocorticism, and 3 had both clinical and laboratory abnormalities. None of the prepubertal patients had detectable signs of testicular insufficiency, while 3 of the 7 pubertal/adult patients had elevated serum LH or FSH levels. This mild testicular deficiency was seen only in association with clinical adrenal insufficiency and significant neurological impairment.

Hypertension in neonatal hyperthyroidism.

Hypertension has only recently been reported in neonatal hyperthyroidism. We describe three children with hypertension as a prominent part of the syndrome. Antihypertensive therapy alone was ineffective in controlling elevated BP. All patients showed gradual resolution of hypertension once a euthyroid state was achieved.