To investigate thrombin generation and its relationship to platelet hyperactivity in insulin-dependent diabetes mellitus early in the course of the disease, thrombin-antithrombin III complex (TAT) levels were measured together with thromboxane B₂ (TX B₂) and 6-keto-prostaglandin F1α (6-keto-PGF1α) levels in thirty-two patients.
The mean plasma TAT level in diabetics was significantly elevated as compared with normal control subjects (2.3±1.0ng/mL vs. 1.7±0.5ng/mL, P<0.05). The mean plasma TX B₂ level in diabetics was also significantly higher when compared with that of the controls (46.2±30.5pg/mL vs. 28.2±14.2pg/mL, P<0.05). Plasma 6-keto-PGF1α levels did not show significant differences between the two groups (diabetics: 11.2±7.4pg/mL vs. normals: 10.2±6.9pg/mL, NS). Neither TAT nor TX B₂ levels showed statistically significant correlation with glycosylated hemoglobin (HbA_1C), although patients with relatively good glycemic control (HbA_1C<9%) had no abnormalities of TAT and TX B₂. There was a weak correlation between TAT and TX B₂ levels (r=0.40, P<0.05), suggesting a link between thrombin generation and platelet hyperactivity.

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Urinary luteinizing hormone (LH) and follicle stimulating hormone (FSH) concentrations were determined by immuno-fluorometric assay (IFMA) and compared with the values determined by immuno-radiometric assay (IRMA). The results of gel chromatography of urine suggested that in IFMA immunoreactive LH consisted of both intact LH and LH β-subunit, while the immunoreactive LH in IRMA was mainly intact LH. In LH measurement, IFMA was much more sensitive than IRMA. Good correlations were observed between urinary gonadotropin concentrations corrected by urinary creatinine in first morning voided urine and mean serum gonadotropin concentrations during the first three hours of sleep.
The reference ranges of urinary gonadotropins in school children aged 6-17 were determined, and the change of urinary gonadotropin concentrations according to pubertal development was investigated in normal short children. Urinary LH levels and urinary LH/FSH ratios in IFMA increased 20-fold according to age and were useful in estimating pubertal development.
Urinary LH and FSH measurement by IFMA is simple and noninvasive, and therefore will be suitable for investigating gonadotropin secretion in normal and abnormal pubertal development.

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The case is presented of a 25-year-old woman with congenital deficiency of growth hormone (GH) and prolactin (PRL). Her height was 108cm (-9.98 standard deviation (SD)) on admission. She had a bulging forehead and a small nose with a retracted bridge. Basal levels of GH and PRL were low. In stimulation tests of GH secretion, no responses were observed. In a thyrotropin-releasing hormone (TRH) loading test, the response of PRL was poor but that of thyrotropin (TSH) was normal. The levels of other pituitary hormones were normal. magnetic resonance imaging (MRI) of the brain revealed no abnormalities. In examination of the pituitary-specific transcription factor (Pit-1/GHF-1) (Pit-1) gene in this patient by the polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) and deoxy ribonucleic acid (DNA) sequencing analysis, neither mutations nor deletions were detected.

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In a screening test, children with insulin-dependent diabetes mellitus (IDDM)(n=24, 12.3±2.8 years) showed significantly lower levels of plasma 1, 5-anhydro-D-glucitol (AG) compared with normal control subjects (n=43, 11.0±2.3 years) and children having renal glucosuria (n=57, 11.6±2.5 years) (AG; 4.5±4.3 vs 25.8±11.9, 14.5±8.3μg/mL; P<0.01, respectively). A plasma AG level of 10.0μg/mL was found to have the most potential as a cutoff value for screening for diabetes (sensitivity 92%, specificity 89%).
We found a high correlation between plasma AG, fasting plasma glucose (FPG) and glycosylated hemoglobin (HbA_1C), in IDDM children at the outpatient clinic (n=68, 12.2±5.2 years) (r=-0.72, -0.82, -0.73; P<0.01, respectively).
These findings suggest that the measurement of plasma AG might be useful for the detection of diabetes; however, AG determination can not be made more available than FPG and HbA_1C in a screening test. On the other hand, the decrease in plasma AG observed in IDDM children with deteriorating glycemic control is probably too small for this to be used as an indicator at the outpatient clinic.

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We detected a novel mutation in the V2 vasopressin receptor gene of two siblings with X-linked congenital nephrogenic diabetes insipidus (CNDI). In two siblings, a C to T substitution was found at nucleotide 1035, altering codon 322 from Pro (CCC) to Ser (TCC) in the seventh transmembrane region by polymerase chain reaction (PCR)-amplification and direct sequencing of V2 receptor gene. This amino acid substitution occurred at residues highly conserved in the G-protein-coupled receptor family. This mutation cosegregated with the phenotype of diabetes insipidus and is thought to be a cause of arginine vasopressin (AVP) resistance.

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Congenital lipoid adrenal hyperplasia (CLAN) results from deficient cholesterol side chain cleavage activity in both adrenal and gonadal mitochondria. Previous studies, however, have failed to disclose a defect in the P450scc gene in six patients studied to date.
To investigate further a cause-and-effect relationship between a mutation in the P450scc gene and congenital lipoid adrenal hyperplasia phenotype, we studied the P450scc genes from five Japanese families, in which at least one member had the entity (six patients and 10 unaffected members), by direct sequencing of all the nine exons and by linkage analysis using restriction fragment length polymorphism and microsatellite polymorphism.
No major rearrangement or minor mutation was found in the entire exonic sequences of the gene in the six patients. The particular copy of the P450scc gene as defined by the microsatellite polymorphism did not cosegregate with the disease in one informative family.
We conclude that the primary lesion in congenital lipoid adrenal hyperplasia does not reside in the P450scc gene in most, if not all, of the patients.

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We report two boys in whom pseudohypoparathyroidism (PHP) type 1a was diagnosed at 3 and 2.5 years of age. Mild primary hypothyroidism was diagnosed prior to PHP, at the age of 1 and 15 months respectively. Neonatal thyroid screening had been normal in both boys. One of them did not have the clinical features of Albright hereditary osteodystrophy (AHO) and had a severe hypocalcemia with increased serum intact parathyroid hormone (PTH) and PTH insensitivity. He had a chromosomal translocation 2; 18. The other child had several characteristics of AHO, a mild hypocalcemia and increased serum intact PTH and PTH insensitivity. He also had a nose hypoplasia which could suggest associated acrodysostosis. Both children had a decreased activity of the stimulatory guanine nucleotide-binding protein (Gs) of adenylate cyclase; only the first one had a decreased biological PTH activity in the renal cytochemical bioassay.
In conclusion, although neonatal thyroid screening may be normal, hypothyroidism may develop in infancy as the first manifestation of the PHP type 1a. These two cases also illustrate the heterogeneity of the PHP type 1a syndrome.

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