Search

A pituitary evaluation was carried out in a 12-year-old girl who had early puberty, short stature, optic nerve hypoplasia, and agenesis of the corpus callosum. Her growth hormone (GH) response to insulin-induced hypoglycemia and arginine infusion was blunted. Basal and stimulated levels of prolactin were elevated. The association of GH deficiency and hyperprolactinemia suggests a disruption of the dopaminergic modulation of these hormones. The facial features seen in our patient, such as hypertelorism, V-shaped frontal hairline, and cleft nose and upper lip, are enough to justify the diagnosis of median cleft face (MCF) syndrome. However, the optic nerve hypoplasia and the GH deficiency are characteristics of septo-optic dysplasia, and, to our knowledge, they have never been described in patients with MCF syndrome. Our case fulfills the diagnostic criteria of both, representing a link between both ends of this spectrum.

• A mildly obese 15-year-old boy had short stature with rounded facies and short, stubby hands and toes. He had the fully expressed syndrome of pseudohypoparathyroidism but was the only member of his family who had all the somatic characteristics of this disease. The serum parathyroid hormone level was substantially elevated. Urinary excretion of cyclic adenosine monophosphate and phosphate failed to increase following intravenous infusion of parathyroid hormone. However, he did not have hypocalcemia. The present entity is probably a transient form of pseudohypoparathyroidism with partial responsiveness of skeletal adenyl cyclase to parathyroid hormone. ( Am J Dis Child 129:1092-1095, 1975)

• We describe a premature female infant exposed in utero to danazol during the first trimester of pregnancy. She was first observed in the newborn period with marked degree virilization and clinical findings suggestive of salt-losing congenital adrenal hyperplasia. This was supported by the high plasma levels of 17α-hydroxyprogesterone and adrenocorticotropic hormone and low plasma cortisol level. Levels of testosterone, androstenedione, 11-deoxycortisol, and renin were also elevated. An excessive increase in the levels of 17α-hydroxyprogesterone and 11-deoxycortisol to corticotropin administration associated with impaired increase in plasma cortisol level strongly suggests a partial block in the 21-hydroxylation of 17α-hydroxyprogesterone. However, the high levels of 11-deoxycortisol also suggest a block of the steroid 11 β-monooxygenase. A year later she was found to have normal basal levels of the adrenal steroids and normal response to corticotropin administration, pointing out the transitory nature of these abnormalities. It may be hypothesized that danazol produced a transitory block of the steroid 21- and 11β-monooxygenases in this child. (Am J Dis Child1981;135:1032-1034)

To the Editor:— Aldosterone excretion in urine has been measured in few infants and newborns. The aim of this study was to determine serially normal aldosterone excretion during the newborn period and to see whether there was a relationship between the initial neonatal weight loss and aldosterone excretion. Four normal premature male infants were studied because of the relative ease of collecting 24-hour urine samples in males. Their birth weights ranged between 1,814 to 2,267 gm (4 to 5 lb) and their gestational ages were between 33 and 35 weeks. Three 24-hour urine samples were collected from each: (1) during the first 24 hours; (2) during the 24 hours when they had reached the lowest weight; and (3) during the 24 hours when the regained their birth weight. These infants were fed 5% dextrose in water at 4, 8, and 12 hours of age, and then were fed a milk

A case study details the clinical, biochemical, and roentgenographic findings in a diastrophic dwarf. The clinical findings were scoliosis and lordosis of the spine, club feet, cleft palate, dysplastic hips, and flexion contractures of knee joints and short extremities. Biochemical abnormalities observed were high cholesterol level, abnormal glucose tolerance, low growth hormone levels, and abnormal excretion of xanthurenic and kynurenic acids following tryptophan loading.

Oral glucose tolerance tests on 24 children with achondroplasia showed glucose intolerance in 16 of them. They were also found to have significantly elevated levels of plasma free fatty acids after an overnight fast, which rose still higher following human growth hormone administration. Plasma insulin levels were normal, but growth hormone levels were significantly below normal at 8 am, and tended to remain low during the day. These data are consistent with the concept that children with achondroplasia have a defect in peripheral glucose utilization.