Biomedical subjects
Publications and source records attributed to S S Najjar.
The cause of cryptorchidism remains obscure. Hormonal therapy is ineffective for most patients and initial response may be temporary. Surgery remains the most effective treatment for cryptorchidism. Testicular torsion is a surgical emergency in the postnatal infant and the pubertal male. Controversy surrounds the management of prenatal torsion.
An adolescent with Graves' disease presented with acute painful swelling of the thyroid gland and overlying erythema simulating acute suppurative or subacute thyroiditis. She had an elevated radioactive iodine uptake, thyroid stimulating antibodies, thyrotrophin binding inhibiting immunoglobulins, and a normal sedimentation rate and leucocyte count. The course of the thyrotoxicosis and painful thyroid was protracted, and the pain and tenderness of the thyroid recurred on two subsequent relapses.
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Twelve sick neonates, ten of whom were prematures, were found to have transient primary hypothyroidism. Two months after cessation of treatment all those followed were found to be clinically and biochemically euthyroid. The possible etiologic factors in the pathogenesis of transient hypothyroidism of the sick prematures are discussed. Iodine deficiency is probably an important precipitating cause.
Four sibs, three males and one female, had microcephaly, hypergonadotropic hypogonadism, short stature, and multiple congenital anomalies. They had five normal sibs and consanguineous parents. Findings in the affected sibs also included a narrow forehead, synophrys, micrognathia, abnormally folded pinnae, early loss of teeth in three, cubitus valgus in two, genu valgum, gynecomastia, and undescended testes in one. All sibs had normal chromosomes. Results of tests for growth hormone release and adrenocortical function were normal. Luteinizing hormone releasing hormone (LHRH) and human chorionic gonadotropin (hCG) stimulation tests were consistent with primary gonadal failure. Testicular biopsy, performed on two affected males, was normal in one and showed focal atrophy with decreased spermatogenesis in the other. The patients manifest a phenotype different from all other known types of hypergonadotropic hypogonadism and appear to represent a new MCA/MR syndrome.
Three brothers with diabetes mellitus, thiamine-responsive megaloblastic anemia, and sensorineural deafness are reported. Two had, in addition, congenital septal defects. The activities of thiamine-dependent enzymes were determined in one patient, revealing low alpha-ketoglutarate dehydrogenase activity, which could have caused a sideroblastic anemia with secondary megaloblastic changes. The anemia was thiamine dependent. The cause of the diabetes mellitus was not known, but it was not type 1.
An 8-month-old male infant had fever, polymorphonuclear leukocytosis, and tender, firm, elevated erythematous plaques on his face, trunk, and extremities. Histologic examination revealed a dense, perivascular, polymorphonuclear, inflammatory cell infiltrate with nuclear dust in the dermis and intrafollicular abscesses. The rash responded promptly and dramatically to oral corticosteroids. In our opinion, these features represent a distinctive hypersensitivity reaction consistent with acute febrile neutrophilic dermatosis (Sweet's syndrome). It seems that Sweet's syndrome has two age peaks: infancy and middle age. In the former, no sex predilection and no underlying malignancy have been recorded. In the latter, females are preponderantly affected and an associated underlying malignancy has been described.
Seven patients with a rare syndrome of diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), neurosensory deafness (D), atony of the urinary tract, and other abnormalities (Wolfram or DIDMOAD syndrome) are reported. Of the seven patients, three siblings were followed up for 10-17 years. All seven patients had diabetes mellitus and optic atrophy; six had diabetes insipidus; and in the four patients investigated there was dilatation of the urinary tract. The severity of diabetes varied, and all required insulin for control of the hyperglycaemia. In one patient the course of the disease simulated maturity onset diabetes of the young; another presented with ketoacidosis; but none had haplotypes usually associated with insulin dependent diabetes mellitus. The diabetes insipidus responded to chlorpropamide, suggesting partial antidiuretic hormone deficiency. Onset of optic atrophy and loss of vision occurred relatively late and progressed slowly, although in one patient there was a rapid deterioration in visual acuity. Deafness was mild, of late onset, and of sensorineural origin. A degenerative process affecting the central and peripheral nervous system can explain all the manifestations of the syndrome except diabetes mellitus. The pathogenesis of the diabetes mellitus remains obscure.
Two brothers, products of a consanguineous marriage, had severe hypoplastic genitalia and cardiomyopathy. These findings are similar to those of three other brothers of another consanguineous family who in addition had evidence of mental retardation. These five boys probably represent a previously undescribed syndrome of genetic origin but of poorly understood pathogenesis.
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Six children, five girls and one boy, presented with recurrent episodes of swelling, pain, and tenderness of the long bones. On roentgenographic examination all had cortical hyperostosis of the affected areas. Serum phosphate concentration was persistently elevated, and calcium values were normal. Bone biopsy and histologic examination in three patients revealed periosteal new bone formation. The Ellsworth-Howard test was performed on three patients; all had a normal phosphaturic response and an increase in urinary c'AMP to exogenous PTH. The EDTA test, performed on one patient, demonstrated significant phosphaturic response, but a minimal drop in serum phosphate concentration. These findings suggest that the association of cortical hyperostosis and hyperphosphatemia is a distinct clinical entity, and that hyperphosphatemia results from decreased renal excretion of phosphate.
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Six patients with congenital generalized lipodystrophy are described. They had generalized paucity of fat tissue, acanthosis nigricans, prominent superficial veins and muscle hypertrophy. They were mentally retarded. Three had corneal opacities. They had normal external genitalia and none was tall for age. Their bone age was advanced and some had minor skeletal anomalies and nephromegaly. The muscle histology on light microscopy was normal. The majority had elevated serum aldolase and to a lesser degree serum lactic dehydrogenase and creatinine phosphokinase. Four of five examined had a myopathic electromyogram. They had normal or deranged liver function tests. The fatty liver infiltration in one seems to be progressive. Four had a normal and two an abnormal metyrapone test. They had an age-dependent abnormality of growth hormone, insulin and carbohydrate homeostasis.
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Eight cases of males with persistent Müllerian structures are reported in four pairs of unrelated siblings. A genetically inherited failure to produce or to respond to the Müllerian-inhibiting substance elaborated by the fetal testis is postulated.