121/184. Impairment of human brain development: glycoconjugate and lipid changes in congenital athyroidism. The brain glycoconjugates, glycosidases and lipids have been studied in a case of human congenital athyroidism never treated with hormonal replacement. Increase of membrane-bound mucopolysaccharides has been found in the grey matter. Total lipids in the white matter, and phospholipids, and total glycolipids and cholesterol in both white and grey matter were reduced. Sialic acid (NeuNAc) and hexosamines in the cytosol grey matter were significantly raised, while they were reduced in the membrane-bound grey fraction. These biochemical findings confirm impairment of the myelination process in human hypothyroidism as is well established in experimental hypothyroidism. The significant changes in the carbohydrate moieties of the brain glycoproteins focus attention on complex alterations of structure and function of the cell plasma membranes. ( info) |
122/184. Avid thyroid uptake of [Tc-99m] sodium pertechnetate in children with goitrous cretinism. Three children with goitrous hypothyroidism had thyroid scans with [Tc-99m] sodium pertechnetate, which showed symmetrically enlarged thyroid glands with uniformly increased activities compared to little activities in the salivary glands and low body background activities. These scan findings, simulating those of Graves' disease, reflect acid trapping of this tracer, analogous to that seen with I-131. Perchlorate discharge test was positive in two patients, indicating an organification defect. ( info) |
123/184. Congenital secondary hypothyroidism with low serum GH and prolactin levels in a 27-day-old male infant. A male infant with secondary hypothyroidism is described. Within the first month after birth, the patient manifested feeding difficulties, lethargy, persistent jaundice, umbilical hernia, and large anterior and open posterior fontanels. The roentgenogram of the knee joints at 27 days showed absence of the distal femoral epiphyses. His serum thyroid-stimulating hormone (TSH) level was low despite decreased levels of triiodothyronine (T3) and tetraiodothyronine (T4) in serum. Assessment of the hypothalamic-pituitary hormone (TRH) nor growth hormone (GH) responses to L-arginine and insulin, while responses of both luteinizing hormone (LH) and follicle-stimulating hormone (FSH) to luteinizing hormone-releasing hormone (LH-RH) and adrenocorticotropic hormone (ACTH) to insulin were within normal limits. The malady of the patient in this case was not detected by newborn screening for congenital hypothyroidism due to the fact that in the Aomori district of japan thyroid screening involves only the measurement of TSH. Such measurement cannot detect cases of secondary or tertiary hypothyroidism such as our patient. Replacement therapy was initiated at 58 days and his physical and mental development has been regarded as normal since treatment. ( info) |
124/184. TSH unresponsiveness, a case report. A patient with congenital primary hypothyroidism is presented. His thyroid gland had a normal uptake of radioiodine which was independent of endogenous or exogenous TSH, sympathetic B-receptor blockade or prostaglandin inhibition. Infusion of dibuturyl-cyclic amp increased the uptake of radioiodine and stimulated release of protein bound 131I. He had no goitre even when he did not receive thyroxine, but thyroid histology showed evidence of active epithelium in the presence of adequate substitution with thyroxine. We assume that some unknown factor other than TSH stimulates part of the glandular function in this patient, without leading to adequate formation and release of thyroid hormone. ( info) |
| The frequency of HLA-A and B antigens were studied in 32 Japanese patients with congenital hypothyroidism due to thyroid dysgenesis, and in their parents. The incidence of the Aw24 antigen was significantly higher in 27 mothers of patients with ectopic thyroid (91.3%, corrected P less than 0.037) and it seemed to be slightly higher in patients (77.7%) than in controls (56.8%). The Aw24 antigen was also found in 4 patients with thyroid hypoplasia and their mothers. No difference was found in the incidences of the antigen in the fathers of patients and in controls. The haplotype frequencies were not significantly different in controls, patients and their parents. These findings suggest that the gene for susceptibility to congenital hypothyroidism due to thyroid dysgenesis is closely linked to the gene for the HLA-A locus of the patients' mothers. ( info) |
126/184. Pituitary thyrotropic adenoma associated with congenital hypothyroidism. Report of two cases. Two patients with congenital hypothyroidism and thyroid-stimulating hormone-secreting pituitary adenomas are described. Both patients had a history of long-standing, inadequately treated hypothyroidism accompanied by markedly elevated levels of serum thyroid-stimulating hormone. Pituitary tissue, obtained at autopsy in the first patient and at surgery in the second, disclosed a thyrotropic adenoma. Immunocytochemical studies with anti-thyroid-stimulating hormone antisera showed both tumors to be strongly immunoreactive. Such thyrotropic adenomas of the pituitary gland are presumed to occur as the result of protracted pituitary stimulation secondary to long-standing thyroid deficiency. ( info) |
127/184. Mitigation of cretinism by breast-feeding. An athyrotic infant had hypothyroidism at 1 year of age. He had grown at an above-average velocity until age 10 months when breast-feeding was discontinued, yet his bone age remained that of a newborn. These observations suggested that breast-feeding had attenuated hypothyroidism by providing significant quantities of thyroid hormones in the milk. To test this hypothesis, thyroxine (T4), 3,5,3'-triiodothyronine (T3), and 3,3,5'-triodothyronine (reverse T3) were measured in breast milk samples collected serially from three months before to four months after delivery. Mean breast milk T4 content fell from 1.4 to 0.7 microgram/dl within 48 hours after delivery, while T3 content rose from 136 to 286 ng/dl. Reverse T3 content remained unchanged. The shift in the T4/T3 ratio after delivery was observed in samples of all five donors; the highest postpartum T4 level was 1.1 microgram/dl and the highest postpartum T3 level was 405 ng/dl. It is concluded that breast-feeding may deliver sufficient thyroid hormones to the athyrotic infant to mitigate severe hypothyroidism and to prevent impaired neurological development. ( info) |
128/184. Suxamethonium apnoea associated with pregnancy and liver dysfunction in a treated cretin. A patient, with a history of cretinism, who developed suxamethonium apnoea as a consequence of a reduction in plasma cholinesterase activity secondary to the concurrence of pregnancy and liver dysfunction associated with pre-eclampsia is reported. The patient had a normal phenotype for plasma cholinesterase. ( info) |
129/184. Long-term follow-up records. Having accumulated a very large series of patients' records over a period of 60 years, some involving three generations of a family, the author has selected cases that illustrate the opportunities to observe the progress of patients from infancy for more than half a century. This unique opportunity has included a variety of clinical conditions such as congenital syphilis, cretinism, acute osteomyelitis, and pink disease and represents a long term follow-up of conditions which reflect both the paediatrics of the past and the changes in the pattern of disease which have occurred in the course of 60 years. ( info) |
130/184. paralysis of the right hemidiaphragm. A case is described of a baby born with a combination of a paralysed hemidiaphragm and congenital hypothyroidism which led to the need for artificial ventilation. Difficulties were encountered in discontinuing the ventilatory support. The problems involved in timing extubation of infants are discussed together with consideration of the diagnosis and treatment of neonatal hypothyroidism. ( info) |