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  • 1
    ISSN: 1432-1076
    Keywords: Hypothalamic hormone ; Idiopathic hypopituitary dwarfism ; Lysine-vasopressin ; Multiple anterior pituitary hormone deficiencies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Somatotropic, thyrotropic, gonadotropic and corticotropic functions in 10 patients with idiopathic hypopituitary dwarfism (IH) were investigated. The patients were divided into two groups: Group I (5 patients) had normal plasma T4 levels, and Group II (5 patients) had T4 levels of less than 4.6 μg/dl. In Group I three cases had isolated growth hormone (GH) deficiency and two cases had GH and gonadotropin (Gn) deficiencies; in Group II the 5 cases showed multiple anterior pituitary hormone deficiencies. In Group II, the plasma thyroid stimulating hormone (TSH) was 4.1–9.4 μU/ml and the response to thyrotropin releasing hormone (TRH) was greatly delayed and prolonged, with a maximum after 120 min instead of 15 min. The basal prolactin (PRL) level in Group II was 12–31 ng/ml, which was significantly higher than normal (P〈0.001). In 4 cases in Group II, the plasma cortisol level increased 120 min after the infusion of lysine-vasopressin, whereas oral administration of metyrapone and hypoglycemia induced by insulin did not increase the plasma cortisol levels. From these findings it is concluded that hypothalamic lesions caused the pituitary hormone deficiencies in 4 Group II cases, and Group I may tentatively be differentiated from Group II by T4 determinations.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: Mucolipidosis I ; β-Galactosidase deficiency ; Neuraminidase deficiency ; Oligosaccharidosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Neuraminidase deficiency towards fetuin, 2→3 sialyllactose and 2→6 sialyllactose was found in cultured skin fibroblasts from a 10-year-old Japanese girl who exhibits craniofacial dysmorphism, a short neck, vertebral and pelvic deformities and macular cherry-red spots. Neuraminidase deficiency in this case seems the primary enzyme defect because the enzyme activity of her parents was intermediate. In addition, β-galactosidase in leukocytes and cultured skin fibroblasts from the patient was found to be severely deficient, but could be detected in serum and urine. In the parents, β-galactosidase activity was normal. There were moderately increased levels of urinary sialic acid-rich oligosaccharides and glycopeptides in the patient. The clinical and biochemical observations suggest that this case is very close to mucolipidosis I.
    Type of Medium: Electronic Resource
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