We describe the clinical features of severe sexual precocity in a 3.5-yr-old boy. Hormonal evaluation showed LH-independent T hypersecretion. Initial examination of the adrenals and testes revealed no evidence of congenital adrenal hyperplasia, hCG- or androgen-secreting tumors, or McCune-Albright syndrome. In the coding sequence of the LH receptor gene no activating mutation was found. Spironolactone (5.7 mg/kg x d) and testolactone (40 mg/kg x d) were unsuccessful in suppressing the elevated concentration of T. To further determine the origin of the elevated serum T, a selective venous sampling procedure was planned. However before the sampling procedure, high resolution ultrasound examination showed a small tumor in the left testis, which was removed. Histology proved the tumor to be a Leydig cell adenoma. Sequencing of the tumor LH receptor gene revealed a heterozygous mutation in exon 11 encoding a replacement of aspartic acid at position 578 with histidine, which has been shown to be a constitutively activating mutation. These findings indicate that in male patients with gonadotropin-independent sexual precocity, the presence of small testicular Leydig cell tumors harboring a somatic mutation of the LH receptor gene should be considered.
This observation argues in favor of antibiotic treatment for non-typhoid salmonella infection in pregnancy because of the risk of transplacental infection of the fetus.
Acute occlusions of the left circumflex coronary artery were performed in open-chest dogs. A control group (n = 19) was compared with three groups (total n = 17) pretreated once daily with different doses of the cardioselective beta-blocking drug atenolol (ICI 66 082) given by mouth for 5 days. Only animals without coronary collateral vessels were examined, having a mortality rate of 100% in the control group. Arrhythmias and ventricular fibrillation during the first 30 min after coronary occlusion showed a biphasic distribution in time (phase 1a and 1b). A lower degree of beta-adrenoceptor blockade reduced the incidence of arrhythmias and ventricular fibrillation in phase 1a, but fibrillation occurred in all animals during phase 1b. A higher dose of the beta-blocking drug protected the animals from ventricular fibrillation, and arrhythmias in phase 1a were greatly reduced. At all times the ventricular fibrillation threshold in the group pretreated with atenolol was significantly higher than in the control group. In both groups a significant decrease in ventricular fibrillation threshold was found only during phase 1a. The greater sensitivity of phase 1a arrhythmias to beta-blockade and the lack of a decrease in ventricular fibrillation threshold during phase 1b might indicate differences in the genesis of arrhythmias and fibrillation in phases 1a and 1b.
A more detailed understanding of the cerebellar embryogenesis is required to unravel the underlying mechanisms leading to this type of cerebellar malformation, which cannot easily be integrated into the common classification systems. Both the morphological features and the clinical presentation are different from those of other cerebellar structural abnormalities. If this type of congenital malformation is detected more frequently in the future, it seems reasonable that it should be added to the list of cerebellar malformations as a distinct type.
The case history of a patient with basal ganglia calcifications found by computerised tomography is presented. Calcium and phosphorus metabolism showed a pattern suggesting lack of parathyroid hormone (PTH). Further studies revealed increased endogenous PTH levels and urinary cAMP excretion. However, endogenous and exogenous PTH could not elicit the cAMP-mediated phosphaturic response, indicating pseudohypoparathyroidism type II. The responses of prolactin to TRH and chlorpromazine was impaired. Basal ganglia calcification in pseudohypoparathyroidism type II may represent the only somatic abnormality in this disease apart from the biochemical abnormalities.
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