Rachel Theodor

Selective hypoaldosteronism in Iranian Jews: An autosomal recessive trait

A salt‐wasting syndrome associated with high plasma renin activity and inappropriately low aldosterone levels was observed among eight Jewish families from Iran. Aldosterone deficiency was due to an inborn error selectively involving the terminal portion of the biosynthetic pathway and characterized by an enzymic block in the conversion of 18‐hydroxycorticosterone to aldosterone. The analysis of the eight pedigrees, including 12 affected children, shows a high coefficient of inbreeding. Genetic analysis, by two independent methods, strongly suggests an autosomal recessive mode of transmission of the syndrome.

Hormonal therapy and pubertal development in boys with selective hypogonadotropic hypogonadism

The authors have compared the effects of treatment with weekly injections of human chorionic gonadotropin (hCG) with those of monthly testosterone (T) injections in males with hypogonadotropic hypogonadism. There was no significant difference in pubertal development as measured by progression through the Tanner stages, final height, or bone age, with the two treatment regimens. The final testicular volume in patients treated with 5,000 U/week of hCG (14.0 ± 2.0 ml) was significantly greater than that in patients treated with 250-mg monthly T injections (4.3 ± 1.8 ml) ( P

Renal Glomerular and Tubular Function following Acute Insulin Deprivation in Juvenile Diabetes mellitus

The effects of acute deprivation of insulin on renal glomerular and tubular functions were studied in 10 children with juvenile diabetes mellitus. Serum glucose concentrations were similar when insulin was administered (251 +/- 112 mg/dl) and when it was withheld (306 +/- 130 mg/dl; 0.5 greater than 0.2). Acute insulin deprivation was associated with a significant reduction in glomerular filtration rate, from 151 +/- 48 ml/min/1.73 m2 to 114 +/- 41 ml/min/1.73 m2 (p less than 0.01). The fractional excretion of sodium rose from 0.45 +/- 0.43 to 0.85 +/- 0.54% (p less than 0.05) and was associated with an enhanced natriuresis; the urinary excretion of sodium increased from 1.67 +/- 1.23 to 2.43 +/- 1.72 microEq/min/kg body weight (p less than 0.05), whereas the urinary excretion of phosphate was not significantly altered from control values. During insulin deprivation a drop occurred in the serum concentration of calcium from 10.37 +/- 0.52 to 9.73 +/- 0.61 mg/dl (p less than 0.01) as well as in its urinary excretion from 0.34 +/- 0.24 to 0.24 +/- 0.20 microgram/min/kg body weight (p less than 0.01). The serum concentration of potassium rose from 4.44 +/- 0.41 to 4.96 +/- 0.51 mEq/l, but its urinary excretion was not significantly different from control values. These data suggest that in juvenile diabetes mellitus the acute deprivation of insulin, dissociated from fluctuations in serum glucose concentration, is associated with a fall in glomerular filtration rate, an increased natriuresis, and a modified calcium and potassium homeostasis.