Ralph E. Peterson

Prenatal diagnosis of adrenogenital syndrome by amniocentesis

Concentrations of 17-ketosteroids and of pregnanetriol were determined in amniotic fluid from 26 women with normal pregnancies and from 2 pregnant women who had previously given birth to infants with congenital adrenal hyperplasia and whose subsequent pregnancies also resulted in infants with the disease. Pregnanetriol concentration of amniotic fluid was measured by a new double isotope dilution derivative technique capable of measuring microgram levels of pregnanetriol. The presence of the disease could not be predicted during early or mid-pregnancy, but values for both 17-ketosteroids and pregnanetriol were suggestively elevated in amniotic fluid obtained at term from affected pregnancies.

Hypoaldosteronism as a cause of hyperkalemia and syncopal attacks in a patient with complete heart block

Abstract A patient with complete heart block in whom recurrent ventricular asystole was precipitated by hyperkalemia is described. The elevation in serum potassium is believed to have been due to isolated hypoaldosteronism, in view of the presence of low plasma and urinary aldosterone levels during sodium restriction, and the absence of significant impairment of glucocorticoid function. The electrolyte alterations, other than hyperkalemia, consisted of hyponatremia and inefficient renal conservation of dietary sodium. The serum electrolyte abnormalities were corrected and the syncopal attacks abolished upon administration of 9-alpha-fluorohydrocortisone. It is noted that no characteristic clinical syndrome can yet be associated with hypoaldosteronism, save that resulting from secondary hyperkalemia in the two patients with atrioventricular block thus far described.

URINARY STEROID METABOLITES IN SUBJECTS WITH MALE PSEUDOHERMAPHRODITISM DUE TO 5α‐REDUCTASE DEFICIENCY

To investigate the enzymatic basis for abnormal steroid metabolism in subjects with male pseudohermaphroditism due to 5α‐reductase deficiency, the ring A reduced urinary 5β and 5α metabolites of testosterone, androstenedione, 11β‐hydroxyandrostenedione, cortisol and corticosterone were measured by gas chromatography. Assays of the four pairs of urinary 5β and 5α steroid metabolites revealed decreased conversion of the parent steroids to 5α‐reduced urinary metabolites, with increased 5β to 5α urinary steroid metabolite ratios. These studies establish that increased urinary 5β/5α ratios are distinctive for this disorder, and represent the most reliable method for confirming the diagnosis of primary inherited 5α‐reductase deficiency. These data also suggest that the conversion on the many Δ4‐3 ketosteroids to 5α‐reduced steroids may be due to a single enzyme with broad specificity, or multiple enzyme reductases with a common regulator.

The hormones of the hypothalamus

Publisher Summary This chapter discusses the hypothalamic hormones that are known as the latest newcomers to the field of endocrinology. These hormones represent the ultimate link between the central nervous system and the endocrine system as the two integrating orders of all homeostasis of the organism. Anatomically connected to the hypothalamus from the early embryological stages, the pituitary gland or hypophysis, a structure present in all vertebrates, has long been known to be the center of all endocrine homeostasis. The hypothalamus has been known from elegant neurophysiological studies to be involved in integrating many of the visceral homeostatic mechanisms of the body such as blood pressure, body temperature, water and electrolyte metabolism, sleep patterns, thirst, hunger, to mention only a partial list of these basic functions. The search for the hypothalamic releasing factors was started as early as 1955 by several groups of investigators.

Juvenile hypertension caused by overproduction of renin within a renal segment

A 6 8/12-year-old boy with severe hypertension was found to have stenosis of a segmental renal artery, which caused overproduction of renin and secondary hyperaldosteronism. Renal vein catheterization failed to demonstrate a significant difference in right and left renal vein renin activities; only at surgery was the diagnosis of segmental overproduction of renin confirmed. Pathologic studies disclosed juxtaglomerular cell hyperplasia limited to the affected segment and provided corroborative evidence of the segmental source of the hyperreninemia.