Autosomal-dominant non-autoimmune hyperthyroidism presenting with neuromuscular symptoms.

AIM: Neuromuscular presentations are common in thyroid disease, although the mechanism is unclear. In the present study, we investigated the pathogenesis in a boy with autosomal-dominant hyperthyroidism presenting with neuromuscular symptoms. METHODS: The TSHr gene was investigated by direct sequencing. Functional properties of the mutant TSHr were investigated during transient expression in COS-7 cells. Family members were investigated by clinical and biochemical examinations. RESULTS: Sequence analysis revealed a previously reported heterozygous missense mutation Glycine 431 for Serine in the first transmembrane segment, leading to an increased specific constitutive activity. Three additional affected family members carried the same mutation. There was no indication of autoimmune disorder. All symptoms disappeared upon treatment with thacapzol and L-thyroxine and subsequent subtotal thyroidectomy. CONCLUSION: The data imply that neuromuscular symptoms can be caused by excessive thyroid hormone levels rather than by autoimmunity.

Increasing incidence of childhood thyrotoxicosis in a population-based area of central Sweden.

AIM: To study the incidence, prevalence and clinical characteristics of childhood thyrotoxicosis in a population-based area comprising five counties in central Sweden. METHODS: Retrospective analysis of the medical records of all children below 16 y of age with thyrotoxicosis during a 10-y study period. RESULTS: Forty-six children were identified with thyrotoxicosis. The median age at onset was 11.7 y and 85% were females. At the end of the study period on 31 December 1999, the prevalence was 0.08 per 1000. The mean annual incidence was four times higher in the second 5-y period than in the first (2.7 and 0.7 per 100000, respectively; p < 0.001). A first-degree relative with thyrotoxicosis was found in 21% of the children and 11/46 children (24%) showed autoimmune-related co-morbidity. Increased heart rate was observed in 95%, goitre in 67% and exophthalmos in 33% of the children. TSH was completely suppressed and free T4 was clearly above the upper reference limit in all children. TSH receptor-stimulating antibodies and peroxidase antibodies were observed in 80% and 71% of the children, respectively. CONCLUSION: This study indicates an increase in the incidence of childhood thyrotoxicosis in a population-based area of central Sweden. A prospective study aimed at identifying specific aetiological risk factors for development of thyrotoxicosis has been initiated.

Eating disorders in adolescent girls with insulin-dependent diabetes mellitus: a population-based case-control study.

In this study the prevalence of eating disorders in a population-based cohort of 89 female patients with type 1 diabetes, 14-18 y of age, was compared with that in age-matched healthy controls. Of all diabetic girls in the study area, 92% participated in the study. The majority were treated with multiple insulin injections and the mean HbA1c of the participants was 8.4%. On average, diabetic girls were 6.8 kg heavier than the controls. A two-stage design was used. The first consisted of a validated self-report questionnaire, the Eating Disorder Inventory (EDI). Girls who had high scores were then interviewed about eating habits and mental health using a semistructured interview, the BAB-T (Assessment of Anorexia-Bulimia - Teenager version). No cases of anorexia or bulimia nervosa were found, but 15 diabetic patients (16.9%) compared with 2 control girls (2.2%), p<0.01, had disturbed eating behaviour according to the questionnaire. In 6 of these 15 diabetic girls an eating disorder was confirmed at the interview, mainly binge eating and self-induced vomiting. None of the control girls showed an eating disorder. Overweight diabetic girls scored higher on EDI than non-overweight diabetic girls (chi2 = 4.9; p = 0.038). No relationships were found between EDI scores and metabolic control (HbA1c), dose of insulin, frequency of hypoglycaemia or diabetic ketoacidosis.

A boy with complete triploidy and unusually long survival.

A boy with complete triploidy and extensive external and internal congenital malformations who survived for almost seven months is presented. He was born after 31 weeks of gestation, was utterly small for gestational age and the delivery was induced because of intrauterine asphyxia. The infant had typical features of the complete triploidy syndrome. He did not develop mentally or motorically even to a normal neonatal level. Banding analysis of chromosomes and HLA-antigen typing of the patient and his parents suggested that the abnormal cell division had occurred during the oogenesis. The boy suffered a fatal Pneumocystis carinii infection, suggesting defective cellular immunity. In the vast majority of previously reported cases of complete triploidy the infant has died either before birth or within the first postnatal hours and except for four patients, all reported patients have died before the age of 2 months. Our patient illustrates the fact that with modern neonatal intensive care, infants with severe malformation syndromes can survive for longer periods than previously, but in the case of patients with the complete triploidy syndrome without developing mentally at all. The ethical problem of artificially prolonged survival in severely handicapped children is discussed.