The clinical and biochemical abnormalities associated with Type 1 glycogen-storage disease can be reversed by avoidance of hypoglycemia and secondary hormonal flux. Three patients with Type 1 disease were treated with intragastric infusions of a high glucose formula at night with three-hour starch feedings during the day. This regimen stabilized blood glucose levels above 70 mg per deciliter and decreased serum uric acid, triglyceride, lactate and serum oxalacetic transaminase levels, as well as hepatic size, in all patients. Increased linear growth rate (mean 1 cm per month) was associated with a decrease in mean plasma glucagon (from 190 to 40 pg per milliliter) and an increase in mean plasma insulin (from 19 to 43 muU per milliliter, [two patients]). These changes occurred within four weeks of beginning of treatment and continued with home treatment for 13 months. No complications resulted from tube placement daily by the patients. Type 1 disease can be managed by nighttime intragastric feeding and frequent daytime high starch meals.

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To investigate the functional role of renal intrinsic antioxidant enzymes (AOEs), the levels of AOE activities in isolated glomeruli and the changes in renal function to oxidant insults were assessed in normal control rats (NC, N = 23) and rats subjected to 30-minutes of complete renal ischemia for three days (day-3, N = 20) or six days (day-6, N = 23) prior to study. When compared to NC, the activities of total and manganese (cyanide-insensitive) superoxide dismutase, glutathione peroxidase, and catalase were increased more than twofold in day-6 animals, on average, from 36 +/- 4 U/mg protein, 9 +/- 1 U/mg protein, 129 +/- 21 U/mg protein and 1.32 +/- 0.20 k/mg protein, respectively, to 80 +/- 5, 27 +/- 3, 283 +/- 41 and 3.20 +/- 0.20, respectively (P less than 0.05 for all). There were no changes in AOE activities in day-3 animals. In day-6 animals, however, the activities of non-AOEs, LDH and fumarase were found to be unaffected. Separate groups of NC (N = 12), day-3 (N = 5) and day-6 (N = 12) rats were subjected to either 30 minutes of ischemia plus 60 minutes of reperfusion (I/R) or unilateral i.a. infusion of hydrogen peroxide (H2O2, 35 mu moles in 1 hr). The degree of reduction in inulin and para-amino hippurate clearance rates following I/R were significantly less in day-6 (-21 +/- 3% and -12 +/- 2, respectively) compared to NC (-69 +/- 9% and -59 +/- 11, respectively) or day-3 rats (-73 +/- 7% and -62 +/- 10, respectively).(ABSTRACT TRUNCATED AT 250 WORDS)

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Summary. Superoxide dismutase was administered intravenously to rats 50min prior to intravenous administration of a diabetogenic dose of streptozotocin. A dose of 45 mg/kg streptozotocin alone produced marked glucose intolerance and a decrease in pancreatic insulin content to less than 10% of control; both of these effects were abolished by prior administration of 105 u/g of superoxide dismutase. Superoxide dismutase (105 u/g) administered 50 min before 65 mg/kg intravenous streptozotocin did not prevent the development of diabetes. The fall in pancreatic insulin content seen with streptozotocin alone was, however, partially reversed by superoxide dismutase.

ExtractThe concentration of luteinizing hormone (LH) and follicle stimulating hormone (FSH) in serum was determined using a double antibody radioimmunoassay method in each of 106 normal boys aged 5-16 years. The boys were grouped according to the stage of puberty (Pj-P 5 ) using the classification of TANNER.The serum LH and FSH, LH/FSH ratio, and testicular volume index (TVI) for boys prepuberty (Pj) and at different stages of puberty (P 2 -P 5 ) are shown in figure 1 and table I. The mean value of LH in prepubertal boys was 4.2 ng/ml, which steadily rose to a concentration of 5.3 ng/ml at P 4 _ 6 . The differences between the values for LH in early puberty (P 2 ) and at a more advanced stage of puberty (P 4 _ 5 ) were statistically significant. The mean value for serum FSH in the prepubertal boy was 1.4 ng/ml. Serum FSH rose steadily through the early stages of puberty (P 1 -P 3 ) with no further rise from P 3 to P 4 _ 5 . These changes were reflected in the LH/FSH ratio which fell between P 1 and P 2 , but increased between P 2 and P 4 . Testicular size (TVI) showed a gradual increase from P x through P 4 _ 5 .A comparison of serum LH and FSH, LH/FSH ratio, and TVI with chronological age is indicated in table II. A slight increase in the mean levels of serum LH and FSH was observed from age 9 to age 12 with a continued rise to 15 years and older. Serum LH seemed to rise at an earlier age than serum FSH. The TVI showed a definite increase from chronologic age 8 through 11. A pronounced change in testicular size from age 11 through 15 was observed during the period of sharp rise in serum FSH.The correlation of bone age with concentrations of LH and FSH in serum, LH/FSH ratio, and TVI is shown in table III. A significant rise in LH was seen in boys with a bone age of 9-10 years, with a further increase at a bone age of 13-15 years and older. Serum FSH showed a steady increment from a bone age of 11 to 14 years. The most pronounced increase in TVI was seen at a bone age of 11 through 15 years.The relation of concentrations of LH and FSH in serum and LH/FSH ratio to the TVI is presented in table IV. Mean LH and FSH showed a gradual rise from a TVI of < 2 to 10.1-12. Serum LH rose and serum FSH fell, however, with the increase in TVI from 10.1-12 to 12.1-16.In four patients with chroma tin-positive seminiferous tubular dysgenesis (Klinefelter's syndrome), the mean serum LH concentration was 11.3 ng/ml and the mean serum FSH concentration was 21.6 ng/ml. BURR, SIZONENKO, KAPLAN and GRUMBAGHThe mean serum LH in 14 patients with multiple pituitary hormone deficiencies was 2.1 ng/ml and the mean serum FSH was 1.5 ng/ml. The small differences in the concentration of LH and FSH in prepubertal boys compared with that observed in children with hypopituitarism stress the need for further definition of the sensitivity of the assay for serum samples. The serum values reported are of relative not absolute significance. SpeculationThe detection of serum FSH and LH prior to puberty, and the increase in serum FSH and LH coincident...

Congenital adrenal hyperplasia (CAH) is a common genetic disorder due to defective 21-hydroxylation of steroid hormones. The human P45OXXIA2 gene encodes cytochrome P450c2l [steroid 21-monooxygenase (steroid 21-hydroxylase), EC 1.14.99.10], which mediates 21-hydroxylation. The P45OXXIA2 gene may be distinguished from the duplicated P45OXXIA1 pseudogene by cleavage with the restriction endonuclease Taq I, with the XXIA2 gene characterized by a 3.7-kilobase (kb) fragment and the XXIA1 pseudogene characterized by a 3.2-kb fragment. Restriction endonuclease mapping by several laboratories has suggested that deletion of the P45OXXIA2 gene occurs in about 25% of patients with CAH, as their genomic DNA lacks detectable 3.7-kb Taq I fragments. We have cloned human P450c21 cDNA and used it to study genomic DNA prepared from 51 persons in 10 families, each of which includes 2 or more persons with CAM. After Taq I digestion, apparent deletions are seen in 7 of the 20 alleles of the probands; using EcoRI, apparent deletions are seen in 9 of the 20 alleles. However, the apparently deleted alleles seen with Taq I do not coincide with those seen with EcoRI. Furthermore, studies with Bgl II, EcoRI, Kpn I, and Xba I yield normal patterns with at least two enzymes in all cases. Since all probands yielded normal patterns with at least two of the five enzymes used, we conclude that the P45OXXIA2 gene "deletions" widely reported in CAH patients probably represent gene conversions, unequal crossovers, or polymorphisms rather than simple gene deletions.