原发性甲状腺功能减退致类多肌炎样综合征四例报道并文献复习

目的 提高甲状腺功能减退致类多肌炎样综合征的认识.方法 报道4例确诊为原发性甲状腺功能减退致类多肌炎样综合征的临床特点.结果 4例患者均为男性,开始均出现双下肢乏力和肌酸激酶明显增高等类多肌炎样表现,后检查确诊为原发性甲状腺功能减退,经过甲状腺激素补充治疗后类多肌炎样表现明显好转.结论 甲状腺功能减退可合并类多肌炎样综合征,临床上肌酸激酶增高时应注意筛杳甲状腺功能.     

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??Abstract??Hypothyroidism is a common endocrine disorderthat can be divided into 3 types??primary??central hypothyroidism??and thyroid hormone resistance syndrome.Primary hypothyroidism refers to hormone deficiency caused by intrinsic dysfunction of the thyroid gland that disrupts the synthesis and secretion of thyroid hormone.It accounts for more than 95%of patients with hypothyroidism and frequently associated with radioiodine therapy??surgical resection of thyroid tissue and chronic autoimmune thyroiditis.As the transition of life style and environment??some factors includingexcessive intake of iodine??increasing environmental pollution??life and work stress??and deficiency of vitamin D caused by insufficient sun exposure should not be ignored.     

Camptocormia as a clinical manifestation of polymyositis/systemic sclerosis overlap myositis associated with anti-Ku

Camptocormia, an abnormal truncal flexion posture that occurs while walking or standing, is usually caused by various hypokinetic movement disorders, mainly Parkinson disease. We describe the case of a man with subacute onset of camptocormia. Quadriceps muscle biopsy showed significant rhabdomyolysis, few isolated inflammatory cells and mild expression of type I MHC in few fibers, a pattern usually found in immune-mediated necrotizing myopathies. Myositis was associated with Raynaud’s phenomenon, mild sclerodactyly, and anti-Ku antibodies leading to the diagnosis of polymyositis/systemic sclerosis overlap myositis. The posture showed modest improvement in response to treatment.     

Camptocormia: a sign of axial myopathy. Report of 7 cases

PURPOSE: Camptocormia or progressive lumbar kyphosis is an anterior bend of the trunk. It appears in orthostatism or while walking and is reducible in the decubitus position. It concerns patients older than 60 years of age. It is due to a fatty degeneration of the paravertebral muscles, although the physiopathology remains unclear. METHODS: We report seven cases of camptocormia revealing authentic myopathies. RESULTS: Our observations concern five women and two men of 55 to 72 years of age. All patients present lumbar kyphosis and had a fatty involution of the paraspinal muscles on the muscular MRI. Four patients fulfilled the Bohan and Peter criteria of polymyositis and dermatomyositis. In the other cases paravertebral muscular biopsies led to the diagnosis of a congenital myopathy, a mitochondrial myopathy and an amyloid myopathy. Four patients received a corticosteroid-immunoglobulins or cyclosporin regimen. An improvement in the camptocormia was observed in three cases. In the other cases the treatment consisted of chemotherapy on account of severe nephrotic syndrome, a coenzyme-Q treatment for the patient with mitochondrial myopathy and only physiotherapy in the case of congenital myopathy, but without positive effect on camptocormia. CONCLUSION: Camptocormia appears as a muscular symptom that may reveal an axial myopathy due to multiple and varied pathologies. Thus, the discovery of camptocormia requires an aetiological investigation in order to propose an adequate treatment, which should be associated with physiotherapy.     

Hypothyroidism presenting as muscle stiffness and pseudohypertrophy: Hoffmann's syndrome

There is a spectrum of muscular abnormalities that occurs in patients with hypothyroidism. Alterations in deep tendon reflexes are commonly observed although more extensive muscle disease is less frequently seen. Two patients who demonstrated increased muscle mass, muscle stiffness with variable degrees of muscle weakness and low levels of serum thyroxine (Hoffmann's syndrome) are described. At the time of presentation, the serum creatinine phosphokinase level was more than 10 times greater than normal, and electromyography revealed repetitive positive waves. After therapy with thyroid hormone, there was complete resolution of the muscle abnormalities, and laboratory studies were performed. In this report, we review the clinical syndrome of muscle dysfunction that can be seen with the more severe forms of hypothyroid myopathy.     

Polymyositis-like syndrome in hypothyroidism: review of cases reported over the past twenty-five years.

Polymyositis-like syndrome, with proximal muscle weakness and elevation of muscle enzymes, may be a clinical manifestation of hypothyroidism. To define the clinical, biochemical, electromyographic, and pathologic characteristics of patients with this syndrome, we identified and reviewed by MEDLINE all cases reported in the English literature from January 1, 1975 through December 31, 2000. Thirty-two cases were considered. Fifty-nine percent of the patients were male with a mean age of 54.7 +/- 22.6 years, (+/- 1 standard deviation [SD]). Weakness was described in 100% of patients. Other common clinical manifestations were: delayed tendon reflexes with slow relaxation phase (41%), muscle tenderness (25%), and muscle induration (9%). The mean creatine kinase (CK) was 2164 +/- 1954 U/L (+/- 1 SD) and the mean thyroid-stimulating hormone (TSH) was 114.8 +/- 85.6 mIU/L (+/- 1 SD). Fifty percent of patients had electromyography; half of the studies were normal while the other half showed nonspecific myopathic changes. Biopsies were performed in 80% of the patients. The most common findings were type II fiber atrophy, type I fiber hypertrophy, central nuclei disposition, necrosis, increased percentage of type I fibers, and decreased percentage of type II fibers, inflammatory infiltrate and the presence of core-like structures. The characteristics of polymyositis-like syndrome in hypothyroidism did not differ from those of nonspecific hypothyroid myopathy. Clinical judgment alone may not be sufficient to suspect and detect these patients. Serum TSH levels should be routinely determined in all patients with muscle weakness or elevation of creatine kinase.     

Effects of fasting, refeeding, and fasting with T3 administration on Na-K,ATPase in rat skeletal muscle.

It is known that Na-K,adenosine triphosphatase (ATPase) in cell membranes represents an important consumer of cellular energy, eg, adenosine triphosphate (ATP), and that the concentration and activity of this enzyme change in a dose-dependent manner with serum thyroid hormone levels. To examine the hypothesis that low triiodothyronine (T3) syndrome represents a cellular adaptation in generalized severe illnesses that saves tissue energy expenditure, we measured the muscle Na-K,ATPase concentration and its activity in rats that led to low T3 syndrome induced by fasting. The Na-K,ATPase concentration was measured by 3H-ouabain binding to soleus muscle, and its activity was measured by 42K uptake in the contralateral soleus muscle. The effects of refeeding or T3 administration on Na-K,ATPase in soleus muscle in fasted rats were also examined. Na-K,ATPase concentration and activity were both increased in hyperthyroid rats and decreased in hypothyroid rats. In the fasting state, they were decreased to as low as the levels seen in hypothyroidism. Furthermore, with fasting + refeeding or fasting + T3 administration, Na-K,ATPase in soleus muscle returned to the normal level. These results suggest that tissue energy expenditure, as assessed by Na-K,ATPase, in skeletal muscles of fasted rats with low T3 syndrome is actually decreased to levels seen in hypothyroidism, due at least partly to the decrease in serum T3 concentrations, and that there exist some adaptation mechanisms in the peripheral tissues for the accommodation of energy metabolism in the body through decreased thyroxine (T4) to T3 conversion.     

Two cases of Hashimoto's thyroiditis with transient hypothyroidism.

Two cases of Hashimoto's thyroiditis are presented: a woman who suffered twice from transient hypothyroidism (Case 1), and a woman with polycystic ovary syndrome who had transient hypothyroidism which was inferred to have been caused by exacerbation of Hashimoto's disease (Case 2). In both cases, fluctuation in titers of both anti-thyroglobulin (TGHA) and antimicrosomal antibodies (MCHA) was observed. Although an increased serum thyroid stimulating hormone (TSH) concentration in Case 2 was associated with the increased titer of MCHA, this was not true of Case 1. Measurement of serum iodine concentration in Case 1 disclosed no correlation between serum TSH and iodine concentrations, suggesting that episodes of hypothyroidism in this patient are not due to iodine-induced hypothyroidism. The transient hypothyroidism in Case 2 was considered to be due to fluctuations in immune mechanism(s), but the reason in Case 1 was not clear in the present study.     

Fibrositis and primary hypothyroidism

The prevalence of fibrositis was determined in 100 patients with subclinical or biochemical primary hypothyroidism. Nineteen patients reported symptoms of joint and/or muscle pain with stiffness. Five of these patients presented 7 or more tender points on examination, thus allowing a diagnosis of fibrositis to be made in only 5% of the total group. Symptomatic improvement after thyroid hormone replacement occurred in 10 of the 19 patients, including 3 of those with fibrositis. There were no significant changes in tender points. Our data indicate that fibrositis is uncommon in patients with primary hypothyroidism despite the frequent occurrence of symptoms suggestive of this syndrome.     

Camptocormia as a clinical manifestation of mitochondrial myopathy

Camptocormia is an unusual condition characterized by a progressive weakness of the extensor muscles of the spine that cause an involuntary truncal flexion. Occasionally, camptocormia can be the clinical manifestation of an underlying myopathy, including inflammatory or metabolic myopathies. We present a case of a 78-year-old female with camptocormia associated with a mitochondrial myopathy. Additionally, we review the clinical characteristics of three similar, previously reported cases.     

A 21-year-old woman with consumptive hypothyroidism due to a vascular tumor expressing type 3 iodothyronine deiodinase

We present a 21-yr-old female with a large hepatic vascular tumor and subclinical hypothyroidism. A high level of the thyroid hormone inactivating enzyme type 3 iodothyronine deiodinase (D3) was detected in her tumor, and the TSH of 26.2 mU/liter returned to normal after surgical resection of the mass. This indicates that the vascular tumor caused this adult's hypothyroidism as has now been documented in nine infants with this syndrome. This first example of consumptive hypothyroidism in an adult indicates that the inactivation rate of thyroid hormone by D3 in a vascular tumor can stress the secretory capacity even of the TSH-stimulated normal adult thyroid gland.     

Endocrine myopathies: clinical and histopathological features of the major forms

Endocrinopathies, such as thyroid and parathyroid diseases, disorders of the adrenal axis, and acromegaly are included among the many causes of myopathy. Muscle disturbances caused by endocrine disorders are mainly due to alterations in the protein and carbohydrate metabolisms. Either a deficiency or excess of hormones produced by the glands can cause muscle dysfunction that can be reversed by starting hormone replacement therapy or acting on hormone dysfunction. The diagnosis is usually easy if a muscle disorder occurs in an overt endocrinopathy; however, in few patients, myopathy could be the first manifestation of the underlying endocrinopathy. In this article we discuss pathophysiology, clinical features and management of muscle involvement related to the major endocrine diseases.Key words: endocrine myopathies, muscle weakness, creatine kinase, hypothyroidism, myalgia, rhabdomyolysis     

Pendred syndrome and iodide transport in the thyroid

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing impairment, presence of goiter, and a partial defect in iodide organification, which may be associated with insufficient thyroid hormone synthesis. Goiter development and development of hypothyroidism are variable and depend on nutritional iodide intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4 gene, which encodes pendrin, a transporter of chloride, bicarbonate and iodide. This review discusses the controversies surrounding the potential role of pendrin in mediating apical iodide efflux into the lumen of thyroid follicles, and discusses its functional role in the kidney and the inner ear.     

Sarcoidosis associated with hypothyroidism due to thyrotropin-receptor blocking antibodies

The association of sarcoidosis and auto-immune thyroid disease has been reported. We report a 29-year-old woman, treated for hypothyroidism caused by thyrotropin-receptor blocking antibodies, who developed a sarcoidosis (L?fgren's syndrome). Auto-immune thyroid diseases and sarcoidosis could share common pathogenic mechanisms.     

A case with chronic fatigue syndrome with positive antinuclear antibody followed by postpartum thyroiditis

Autoimmune fatigue syndrome (AIFS) is defined by chronic nonspecific complaints, a positive antinuclear antibody (ANA) assay, and the absence of another explanation for the complaints. Some severe cases fulfill the criteria for chronic fatigue syndrome (CFS). CFS is a syndrome characterized by disabling severe fatigue and defined by the criteria proposed by the U.S. Centers for Disease Control and Prevention. In this report, a patient with chronic fatigue syndrome and positive ANA assay was described as having developed postpartum thyroiditis 5 years after the onset. Subchemical hypothyroidism is characterized by clinical hypothyroidism not meeting biochemical criteria but showing evidence of thyroid autoimmunity. The relation between AIFS and subchemical hypothyroidism is discussed.     

The syndrome of multiple endocrine gland insufficiency

Addison's disease, when caused by idiopathic atrophy of the adrenal cortex, is frequently associated with other endocrine abnormalities. Primary hypothyroidism and hypogonadism have been reported in association with adrenal insufficiency; understandably, such cases may lead to diagnostic confusion with respect to possible pituitary disease.This case study concerns a woman who exhibited, in sequence and over a period of 17 years, hypogonadism, hypoadrenalism, diabetes mellitus and, finally, hypothyroidism. Originally misdiagnosed as having Sheehan's syndrome, she eventually became hyperpigmented. The true nature of her illness was then revealed to be primary insufficiency of multiple endocrine glands, with the demonstration of elevated levels of several pituitary hormones.Because multiple endocrine insufficiencies may coexist or develop with time, we suggest that a patient with a single documented endocrine deficiency be investigated initially and serially for additional glandular deficiencies.     

先天性甲状腺功能减退症患儿的诊治

先天性甲状腺功能减退症(congenital hypothyroidism,CH)简称先天性甲减,是指因甲状腺激素产生不足或其受体缺陷所导致的先天性疾病.原发性先天性甲减是临床上最常见的一类先天性甲减.临床经验表明,在出生后几周内给予甲状腺激素替代治疗,可以预防或明显减轻先天性甲减导致的神经精神发育异常.因此,必须建立...