Abraham Benderly

Clinical Variability of Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency

Studies in 18 Jewish families from Morocco, Tunis, Turkey and Iran revealed 26 patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. The clinical expression of androgen exces

Neurosecretory dysfunction of growth hormone secretion in thalassemia major

ABSTRACT. The growth retardation of children with thalassemia major is multifactorial. Along the endocrine axis of growth hormone (GH), serum somatomedin has been shown to be deficient and GH response to GH‐relasing hormone impaired, while GH response to provocative stimuli is normal. We studied the spontaneous secretion of GH in seven patients with thalassemia major and growth retardation. Three of the patients were hypothyroid, and the other four were euthyroid. Spontaneous secretion of GH in all seven patients was subnormal: the number of pulses, the mean pulse amplitude, and the integrated concentration of GH were all lower than in 14 age‐ and sex‐matched (10 pubertal and 4 prepubertal) control subjects. GH response to provocative stimuli was normal in the euthyroid patients. This pattern of response corresponds with the definition of neurosecretory dysfunction of GH secretion. It is concluded that the growth retardation of patients with thalassemia major is partly due to neurosecretory dysfunction of GH secretion.

Use of Saliva in Home Monitoring of Carbamazepine Levels

Summary: Total carbamazepine (CBZ) levels in serum of 61 epileptic children were compared with saliva levels. Both resting and stimulated saliva was analyzed. The salivary levels were 38.6% of serum CBZ levels. A highly significant correlation was noted (r= 0.89, p < 0.001). Stimulation had no effect on saliva CBZ levels (r= 0.97). Salivary and serum CBZ levels were not affected by storing the samples for 7 days at room temperature. The data indicate that salivary CBZ may provide a reliable alter‐native monitoring method to Tegretol therapy, especially in children, in whom blood sampling is difficult. Further‐more, the samples may be collected at home and delivered to the laboratory by mail.

Defective humoral and cellular immune functions associated with veno-occlusive disease of the liver.

We describe veno-occlusive disease of the liver associated with humoral and cellular immune defects in two siblings. Another child, with aplastic anemia, died before the age of 1 year. No consanguinity was found in the family. Both infants had lymphopenia and hypogammaglobulinemia; the surviving infant has defective in vitro immunoglobulin production after stimulation of lymphocytes with pokeweed mitogen, increased proportions of OKT8 positive cells, defective proliferative responses to phytomitogens, and decreased help for immunoglobulin production. A therapeutic trial with cimetidine, an H2 receptor antagonist, has not changed the immunologic status of the surviving child.

Effect of an Intravenous Gammaglobulin Preparation on the Opsonophagocytic Activity of Preterm Serum against Coagulase-Negative Staphylococci

ABSTRACT. Recent reports have described cases of septicaemia caused by coagulase‐negative staphylococci in preterm neonates, mainly due to the use of artificial intravenous devices. It was of interest to examine if intravenous immunoglobulin therapy, known to be effective in group B streptococcal infections of neonates, had a similar beneficial effect in coagulase‐negative staphylococcal infections. Opsonophagocytosis of coagulase‐negative staphylococci by normal polymorphonuclear leukocytes in the presence of cord blood serum supplemented with the commercial IgG preparation ‘Sandoglobulin’ was investigated, using luminol‐dependent chemiluminescence. It was found that with two different coagulase‐negative staphylococcal strains, Sandoglobulin had a concentration‐dependent enhancing effect on the chemiluminescent response. This effect was demonstrated in the presence of native as well as inactivated cord blood serum and in the presence of sera from preterm infants (28‐33 weeks). It is concluded that intravenous Sandoglobulin therapy may be effective in the treatment of preterm infants with severe coagulase‐negative staphylococcal infections.

Cholestatic pruritus: effect of phototherapy on pruritus and excretion of bile acids in urine.

Pruritus associated with hepatic cholestasis may cause significant morbidity and its correlation to retention of bile acids in skin is inconsistent. Available treatment modalities are only partially effective and can have several adverse effects. Phototherapy has recently been reported to improve cholestatic pruritus, but has not been evaluated previously in children, and its mechanism is still unclear. We report the outcome of multiple Daylite phototherapy treatments over two years in a seven‐year‐old child with chronic hepatic cholestasis that was resistant to other therapeutic modalities. Bile acid levels in urine were used as markers of effectiveness in parallel with clinical response. Night phototherapy alone increased the bile acids/creatinine ratio in urine from 1.54 & 0.04 pmol/mg at baseline to 2.07 ± 0.29 pmol/mg. Continuous phototherapy combined with night diuresis raised the ratio further to 2.28 ± 0.55 μmol/mg. Night diuresis alone had no effect. Continuous phototherapy combined with night diuresis raised the bile acids/creatinine ratio by 44% on the first day and by 61 % on the second day, but declined to baseline on the third day of treatment. A marked clinical improvement was noted for one week following two days of phototherapy. This schedule has been repeatedly effective in improving pruritus for approximately one year and may be due to the ability of phototherapy to enhance excretion of bile acids and other possible pruritogens into urine.

Hypocalcaemia induced by glucocorticoids in a child with hypoparathyroidism treated with 1-?-hydroxyvitamin D3

Glucocorticoids tend to lower the intestinal absorption of calcium, leading to a negative calcium balance. A 7-year-old girl with hypoparathyroidism was maintained as normocalcaemic on 1-α-hydroxyvitamin D3 (1αD3) and calcium gluconate lactate. During an episode of aplastic anaemia she was treated with prednisolone, with a subsequent dramatic fall of serum calcium despite 1αD3 treatment and serum 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) in the high-normal range. Glucocorticoids seem to have interfered directly with cellular events reponsible for intestinal absorption of calcium.

Normal Osmotic Threshold for Vasopressin Release in the Hyponatremia of Hypothyroidism

To explore a possible downward setting of the hypothalamic osmoreceptors in the hyponatremia of hypothyroidism, 4 adolescent patients with hypothyroidism were studied. Plasma and urine osmolality were measured on random paired simultaneous samples, and following a water load. The osmotic threshold was determined by the isovolemic infusion of hypertonic NaCl, and compared to the osmotic threshold of 6 healthy subjects. Random paired urine and plasma osmolality revealed inappropriately high urine osmolality for the given plasma osmolality. A water load produced a normal dilution of urine. Osmotic threshold was found at plasma osmolality of 286-287 mosm/kg, compared to 286.7 +/- 1.0 in 6 normal individuals. It is concluded that none of the known types of the syndrome of inappropriate ADH secretion could account for the hyponatremia in the hypothyroid patients, and that patients with hypothyroidism have normal osmoreceptors as measured by the osmotic threshold test.

Saethre-Chotzen syndrome associated with defective neutrophil chemotaxis.

Abstract. An 11‐month‐old male infant with Saethre‐Chotzen syndrome and recurrent respiratory infections is described. Persistent extremely high leukocytosis warranted evaluation of neutrophil functions. It was found that the opsonophagocytic activity was normal, but neutrophil chemotaxis was markedly decreased. Further studies pointed to an intracellular neutrophil defect causing this motility dysfunction.

A Patient with Copper Deficiency Anemia while on Prolonged Intravenous Feeding

biologic processes, very little has been written about copper deficiency in man until the last few years. With the development of intravenous feeding techniques, more has been discovered about deficiencies in the trace elements, including copper. Many cases of copper deficiency in infancy are caused by gastrointestinal problems which cause poor absorption of copper, but dietary inadequacies also occur. Clinically, many patients with copper deficiency suffer from anemia, neutropenia, long-bone changes, depigmentation of the skin and central nervous system abnormalities