Isolated ACTH deficiency with transitory GH deficiency.

A nine-year-old girl, who presented with a severe hypoglycemic coma, proved to have isolated ACTH deficiency, a finding previously reported in only two children. On the initial evaluation, before any treatment, GH did not respond to provocative stimuli. On replacement therapy with hydrocortisone, normal linear growth was observed.

Does 1,25-dihydroxyvitamin D participate in the regulation of hormone release from endocrine glands?

The presence of receptors for 1,25-dihydroxyvitamin D3 in the pituitary, pancreas, testis, and ovary has raised the question of a possible direct role for 1,25-dihydroxyvitamin D (1,25(OH)2D) in the regulation of hormone synthesis and secretion. To evaluate this problem, six children with the syndrome of resistance to 1,25(OH)2D with rickets and alopecia underwent dynamic tests of insulin, TSH, PRL, GH, and testosterone secretion. Oral glucose loading resulted in normal glucose curves, subnormal peak insulin responses of 12-20 microU/ml in three hypocalcemic patients, and normal peak serum insulin values of 30-40 microU/ml in two normocalcemic patients.

1,25-Dihydroxyvitamin D resistance, rickets, and alopecia.

Two unrelated kindreds with four affected children having 1,25-dihydroxyvitamin D resistance, rickets, and alopecia are described. The children exhibited early onset of severe rickets with hypocalcemia, hypophosphatemia, elevated serum alkaline phosphatase levels, and secondary hyperparathyroidism. Radiography showed diffuse demineralization and classic changes of rickets.

Plasma and urine osmolality in full-term and pre-term infants.

The purpose of the present study was to determine the normal relationship of urine and plasma osmolality in pre-term and full-term infants. Twenty-nine full-term and 35 pre-term babies were studied during the first week of life. Random simultaneous urine and plasma samples were measured for osmolality.

Salt loss in congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.

Nine patients with 11 beta-hydroxylase deficiency had 13 episodes of gastroenteritis requiring hospital admission and fluid administration. Eight episodes were accompanied by hyponatraemia and salt loss. The salt losing patients were treated with excessive glucocorticoid and those with normal serum sodium concentrations were treated with inadequate glucocorticoid.

The modulation of placental lactogen secretion by calcium: studies with cultured human term trophoblast.

Previous reports have documented the negative regulatory effect of calcium ion on the secretion of human placental lactogen by the placenta. Human term trophoblasts were dispersed from term placenta and maintained in monolayer cell culture. Incubation of the cultured trophoblast with EGTA produced a dose-dependent stimulation of placental lactogen secretion.

1,25-dihydroxyvitamin D resistance, rickets, and alopecia: analysis of receptors and bioresponse in cultured fibroblasts from patients and parents.

To investigate further the cellular defects of vitamin D-dependent rickets type II with alopecia, we studied 1,25-dihydroxyvitamin D3 [1,25-(OH)2D3] receptors and the response to 1,25-(OH)2D3 in cultured skin fibroblasts from rachitic patients. Our studies included cells from four affected patients from three kindreds and their parents and cells from five normal subjects. We measured total 1,25-(OH)2D3 receptor binding in cell extracts and the capacity of 1,25-(OH)2D3 to induce the enzyme 25-hydroxyvitamin D3-24-hydroxylase (24-hydroxylase) as a marker of functional response.

Glomerulosa failure in congenital adrenocortical unresponsiveness to ACTH.

We report two children of a family with congenital adrenocortical unresponsiveness to ACTH. Repeated stimulation of the adrenal by Synthetic 1-24 ACTH (Synacthen) failed to increase cortisol secretion, but produced significant rises of serum aldosterone. This was, however, associated with increased plasma renin activity.

Caffeine stimulates growth hormone secretion by cultured rat pituitary cells.

To study the effect of caffeine on growth hormone secretion a culture system of dispersed rat anterior pituitary cells was employed. The cells were incubated overnight in medium 199 containing 10(-5) to 10(-1) M caffeine. The medium was then collected and assayed for rat growth hormone content.

Salt loss in hypertensive form of congenital adrenal hyperplasia (11-beta-hydroxylase deficiency).

Studies in patients with congenital adrenal hyperplasia due to 11-hydroxylase deficiency (11-OHD) suggest a common defect in the adrenal zona fasciculate and zona glomerulosa. The hypertension in untreated 11-OHD patients is considered to be secondary to the accumulation of deoxycorticosterone as a consequence of inadequate 11-beta-hydroxylation in the biosynthesis of aldosterone, and is alleviated by glucocorticoid suppression. To investigate whether deoxycorticosterone suppression in these patients resulted in loss of salt, 11 patients with 11-OHD aged 4-26 yr were studied.

Leucine-induced hypoglycemia in a family: effect of diphenylhydantoin, oxprenolol, and diazoxide.

The present report describes a mother and 2 children with leucine-induced hypoglycemia (LIH). Hypoglycemic episodes following high-protein meals first appeared at age 4-7 months. Leucine-stimulation tests triggered marked hyperinsulinism and hypoglycemia in the children and a milder but abnormal response in the mother.

Parathyroid hormone infusion test in children and adolescents.

10 children with short stature were infused with parathyroid hormone (PTH). The results were compared to those obtained from a study of 28 normal adult volunteers. As expected, the children had higher basal serum phosphorus levels than the adults.

Effects of theophylline on urinary excretion of cyclic AMP, calcium, and phosphorus in normal subjects.

The present study was designed to examine the effects of acute theophylline administration on urinary excretion of cyclic adenosine monophosphate (cAMP), calcium, and phosphorus in normal subjects. The results demonstrated that at therapeutic doses (5 mg i.v.

Insulin regulates placental lactogen and estradiol secretion by cultured human term trophoblast.

We have described a human term trophoblast cell culture system which synthesizes hormones de novo from their precursors. In the present report we utilized this monolayer system to show that insulin produced a dose-dependent stimulation of hPL secretion, with a significant effect at 10(-10) M insulin. At 10(-9) M concentration, insulin also inhibited estradiol secretion by the cultured trophoblast.

Growth enhancement induced by prolonged L-dopa administration in rats.

To follow growth of rats, in which growth hormone secretion has been chronically stimulated, L-Dopa (5 mg/kg) was injected subcutaneously twice daily for 70 days to growing rats. A control group, matched for sex and sibship, pair fed with the treatment group was given saline injections. At 10-day intervals, the rats were weighed and measured.

The effect of single-dose radiation on cell survival and growth hormone secretion by rat anterior pituitary cells.

Cranial irradiation has been shown to impair growth hormone secretion in children. In this study a cell culture of dispersed rat anterior pituitary cells was exposed to single doses of radiation in the range of 100-1500 rad: Survival curves were obtained for the different anterior pituitary cell lines, and growth hormone secretion was measured in the tissue culture medium. Both survival and growth hormone secretion curves showed an initial shoulder in the range of 0-300 rad, followed by a decline between 300-750 rad.

Normal osmotic threshold for vasopressin release in the hyponatremia of hypothyroidism.

To explore a possible downward setting of the hypothalamic osmoreceptors in the hyponatremia of hypothyroidism, 4 adolescent patients with hypothyroidism were studied. Plasma and urine osmolality were measured on random paired simultaneous samples, and following a water load. The osmotic threshold was determined by the isovolemic infusion of hypertonic NaCl, and compared to the osmotic threshold of 6 healthy subjects.

Prolactin binding by testes of unilaterally cryptorchid rats: the effect of hCG, testosterone, prolactin and orchiopexy.

The effect of unilateral cryptorchidism on prolactin binding to the testes was studied in the rat. Cryptorchidism was rendered surgically for 3 weeks and 3, 6 and 9 weeks later prolactin binding was measured in testicular homogenates. Prolactin binding to the cryptorchid testes decreased significantly at 3 weeks with a further decrease at 6 and 9 weeks.

Vitamin D resistant rickets with alopecia: cultured skin fibroblasts exhibit defective cytoplasmic receptors and unresponsiveness to 1,25(OH)2D3.

A new case of vitamin D dependent rickets (Type II) with alopecia in a 5 yr old child is reported. Skin fibroblasts were propagated in culture and analyzed for cytoplasmic 1,25(OH)2D3 receptors. The rachitic cells failed to exhibit specific, high-affinity binding sites by either Scatchard analysis or sucrose density gradient.

Altered osmotic threshold for vasopressin release and impaired thirst sensation: additional abnormalities in Kallmann's syndrome.

Seven subjects with Kallmann's syndrome were studied to determine whether they had disturbances of fluid homeostasis. Simultaneous measurements of urine and plasma osmolality (Uosm and Posm, respectively) were made during free access to fluids. The Uosm-Posm relationship was abnormal in five patients on at least one occasion.