Late-onset 21-hydroxylase deficiency: reliable diagnosis by steroid analysis of random urine collections.

The feasibility of performing steroid analysis by capillary gas chromatography on random urine samples for the detection of mild late-onset 21-hydroxylase deficiency was evaluated. Comparisons were made of basal excretions of androgen and 17 alpha-hydroxyprogesterone metabolites with plasma levels (basal and stimulated) of 17 alpha-hydroxyprogesterone and testosterone in six patients with the disorder. The following steroid metabolite excretion ratios were determined for normal controls and affected individuals.

Hypo-hyperparathyroidism: evidence for a defective parathyroid hormone.

Biochemical evidence for hypoparathyroidism and roentgenographic evidence for hyperparathyroidism were present in a 7-year-old girl with seizures and tetany. She was hypocalcemic (4.7 mg/dl), hyperphosphatemic (11 mg/dl), and normomagnesemic, with elevated parathyroid hormone level (2,603 pg/dl and 3,693 pg/dl in immunoassays utilizing two different antisera).

Carbohydrate metabolism and capillary basement-membrane thickness in children. II. Longitudinal studies.

Longitudinal biochemical and histologic studies were carried out in 11 children receiving oral hypoglycemic agents. There were five "suspected" diabetics (with evidence of glucose intolerance but without repeated fasting hyperglycemia) and six diabetics. Mean fasting plasma glucose (FPG) values showed no significant change during treatment with phenformin alone.

Carbohydrate metabolism and capillary basement-membrane thickness in children. I. cross-sectional studies.

Thirty-nine children from three to 16 years of age were included in this study. Nineteen were diabetics, seven were "suspected" diabetics (with evidence of glucose intolerance but without repeated fasting hyperglycemia), and 13 were controls. Mean glucose disappearance rates (K) during intravenous glucose tolerance tests (IVGTTs) were 2.