Congenital hypothyroidism in a young man with growth hormone, thyrotropin, and prolactin deficiencies.

A growth-retarded, mentally deficient, young man is described with diminished secretory response of growth hormone, thyrotropin, and prolactin to the pharmacologic stimuli of insulin, arginine, chlorpromazine, and thyrotropin-releasing hormone. Gonadotropin and ACTH functions were normal both basically and upon pharmacologic stimulation. Additionally, the patient was unresponsive to exogenous thyrotropin injections. These data suggest that the hypothyroidism in this patient was due to combined thyroid dysgenesis and pituitary insufficiency, i.e., primary and secondary hypothyroidism.     

Decreased opsonization for Streptococcus pneumoniae in sickle cell disease: studies on selected complement components and immunoglobulins.

Opsonic activity for Streptococcus pneumoniae in the sera of patients with sickle cell disease was reduced in comparison to the opsonic activity of sera from age-matched normal children. No difference in opsonic activity for Escherichi coli was observed in the sera from patients or normals. Total hemolytic complement, conversion of C3 by inulin and cobra venom factor, and levels of C3, factor B, properdin, C3b inactivator, and immunoglobulins G, A, and M were normal in patients' sera. The opsonic abnormality for S. pneumoniae was attributed to a deficiency of serum proteins rather than to an inhibitor of opsonic function. The data suggest that decreased opsonization was not associated with a deficiency of those complement components or immunoglobulins measured in this study.     

Iron burden in sickle cell anemia

Total body iron burden was estimated by two indirect methods in 23 patients with sickle cell anemia. Concentrations of serum ferritin correlated directly and significantly with age of the patients. Eleven of 15 patients under 20 years of age had normal levels of serum ferritin. Deferoxamine-induced urinary excretion of iron was considerably less than that reported in patients with thalassemia major who were receiving regular blood transfusions. These data imply that patients with sickle cell anemia generally do not acquire excessive iron burdens during the first two decades of life. The risks of transfusional hemosiderosis in patients with sickle cell anemia who are included in hypertransfusion programs are discussed.     

Glucose phosphate isomerase deficiency with hereditary nonspherocytic hemolytic anemia

Eight children (5 living, 3 deceased) with severe hereditary nonspherocytic hemolytic anemia caused by glucose phosphate isomerase deficiency have been observed in two Kentucky and Indiana families. All affected children were severely anemic in early life. Three deaths occurred in young patients who did not receive adequate transfusions of blood or whose parents refused to permit splenectomy. Splenectomy generally abolishes the requirement for blood transfusion. No patient has required regular transfusion of blood after puberty. Growth and development have been surprisingly normal and no patient has died of infection. The anemia is expressed as an autosomal recessive trait, but the enzyme variant can be detected in hematologically normal heterozygotes. The abnormal isomerase molecule is heat labile and is contained in neutrophils and lymphocytes as well as in erythrocytes.     

Postheparin lipolytic activity and Intralipid clearance in very low-birth-weight infants

The effect of heparin (10 U/kg) on serum lipolytic activity, triglyceride and FFA levels, during four hours infusion of 0.5 gm/kg Intralipid was measured in 18 AGA infants, 25 to 32 weeks' gestational age. PHLA, TG, and FFA were measured at 0, 10, 30, 120, and 240 minutes of infusion of Intralipid, before and following a bolus of 10 U/kg heparin iv. Lipolytic activity, measured by hydrolysis of activated tri-3H-oleate and expressed in mumol FFA released per milliliter serum per hour, was not detected in serum before heparin administration. Ten minutes after heparin administration peak PHLA was significantly higher in infants of 27 to 32 weeks' gestation than in infants of 25 to 26 weeks' gestation. There was no significant difference in peak PHLA between infants of 27 to 28 and 29 to 32 weeks' gestation. PHLA returned to baseline (zero) two hours after heparin administration in all infants. Infants of 25 to 26 weeks' gestational age had significantly higher concentrations of serum triglycerides before and during Intralipid infusion than in infants of 27 to 32 weeks' gestational age. Although there was a transient rise in FFA 10 and 30 minutes after heparin administration, the levels of FFA and triglycerides were not different at the end of infusion with or without heparin in either group, suggesting that a single bolus of heparin has only a transient effect on Intralipid clearance.     

Granulopoiesis in childhood aplastic anemia.

The soft agar technique was employed to investigate factors involved in the regulation of granulopoiesis in ten children with aplastic anemia. Children with AA had greatly reduced numbers of granulocytic colony-forming cells in their bone marrow and in their peripheral blood when compared to "control" children. Colony-stimulating activity was decreased in five of the ten children tested. Serum from eight children with AA did not inhibit colony formation when added to normal adult bone marrow cells in culture. The defect in AA residues in the stem cell, with involvement of the CSA-producing cells in some cases. The serum of these patients does not contain an inhibitor of granulopoiesis.