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81.
Bilateral anotia or microtia is known to be associated with multiple order malformations. The authors report a young infant
who presented with failure to thrive and recurrent respiratory tract infections.The patient had bilaterally absent pinnae;
instead small skin tags were present. He also had asymmetric crying facies and clinical evidence of hypothyroidism in the
form of hoarse voice, constipation and generalized hypotonia. Thyroid function tests confirmed the diagnosis of hypothyroidism 相似文献
82.
Myhre AG Stray-Pedersen A Spangen S Eide E Veimo D Knappskog PM Abrahamsen TG Husebye ES 《European journal of pediatrics》2004,163(10):604-611
We describe the clinical and immunological features of two families with chronic mucocutaneous candidiasis (CMC) and primary hypothyroidism. Family A includes three siblings with both candidiasis and hypothyroidism and four individuals with hypothyroidism only. Family B includes four members with candidiasis, of whom one (a male child) also had hypothyroidism. All individuals affected with CMC had suffered from oral candidiasis and onychomycosis since infancy. Facial seborrhoic dermatitis, general folliculitis and scaling blepharitis were main manifestations. Hypothyroidism became evident during childhood. No thyroid antibodies were present in the affected siblings in family A, while the male in family B with hypothyroidism had antibodies against thyroid peroxidase at diagnosis. Immunological evaluation revealed intra-individual variations in serum immunoglobulin levels, lymphocyte subsets and proliferative responses, but there were no consistent abnormalities. Vaccine responses were normal. AIRE gene region microsatellite markers did not segregate with disease nor were autoantibodies typical for autoimmune polyendocrine syndrome type 1 detected in the families. Conclusion: the link between hypothyroidism and chronic mucocutaneous candidiasis remains to be identified.Abbreviations AADC aromatic l -amino acid decarboxylase - APS 1 autoimmune polyendocrine syndrome type 1 - CMC chronic mucocutaneous candidiasis - GAD glutamic acid decarboxylase - MBL mannose-binding lectin - 17OH 17-hydroxylase - 21OH 21-hydroxylase - SCC side-chain cleaving enzyme - TG-Ab anti-thyroglobulin antibodies - TPO-Ab anti-thyroperoxidase antibodies 相似文献
83.
Kocher-Debre-Semelaigne syndrome is a rare association of muscular pseudohypertrophy and hypothyroidism in children. We report
two cases of this syndrome in this communication. The first case was a seven-years-old female who presented with features
of hypothyroidism and muscle pseudohypertrophy. The second child had similar manifestations but was only fifteen months of
age at diagnosis. This is one of the youngest patients reported to have the Kocher-Debre-Semelaigne syndrome. A short review
of the literature is also presented. 相似文献
84.
Final height and pubertal growth in Japanese patients with congenital hypothyroidism detected by neonatal screening 总被引:3,自引:0,他引:3
Aim: To investigate the final adult heights and pubertal growth patterns in Japanese patients with congenital hypothyroidism (CH) detected by neonatal screening. Methods: A retrospective chart review was conducted of female patients >15 y of age (n = 18) and male patients >18 y of age (n = 9), who were detected by neonatal screening and kept on continuous thyroid hormone replacement therapy. Final height standard deviation scores (FHSDS) and target height standard deviation scores (THSDS) were determined. Parameters characterizing the pubertal growth process (such as age at onset of pubertal growth spurt and age at peak pubertal growth) were obtained from each patient's growth rate chart. Menarchial age was determined in each female patient by reviewing the medical record. The impact on FHSDS of the etiology of CH, the severity of CH, the time of initiation of therapy and the adequacy of treatment during the first year of life was assessed. Results: All patients had received initial thyroid hormone treatment no later than 50 d of age, and had reached their final height. The mean FHSDS for female and male patients were +0.17 ± 0.99 and -0.03 ± 0.99, respectively. The mean FHSDS-THSDS for female and male patients was +0.09 ± 0.77 and -0.19 ± 0.53, respectively. No difference was seen in pubertal growth parameters for either gender compared with that of the reference population, except for a greater peak height velocity and pubertal height gain in male patients. The mean menarchial age was identical to that of the reference population. No significant relationship was found between the FHSDS and any of the factors investigated.
Conclusion: The adult height of patients with CH detected by neonatal screening was equivalent to that of the reference population and their target height. As long as early intervention and satisfactory management are ensured, severe CH does not appear to reduce final adult height. 相似文献
Conclusion: The adult height of patients with CH detected by neonatal screening was equivalent to that of the reference population and their target height. As long as early intervention and satisfactory management are ensured, severe CH does not appear to reduce final adult height. 相似文献
85.
Ortiz-Butron R Pacheco-Rosado J Hernández-Garcia A Briones-Velasco M Rocha L 《Neuropharmacology》2003,44(1):111-116
The effects of a mild hypothyroidism condition on benzodiazepine (BDZ) and mu opioid receptor levels was investigated. Female Wistar rats were randomly divided into two groups: 1) hypothyroid rats (n=7), which received methimazole (60 mg/kg per day) in drinking water for four weeks, and 2) euthyroid rats (n=8), which drank only tap water. Animals were sacrificed and their brains were used for autoradiography experiments. When compared to the euthyroid group, the hypothyroid group presented reduced benzodiazepine receptor binding in medial amygdala (24%) and high mu-receptor levels in frontal (25%), sensorimotor (65%) and temporal (29%) cortices, basolateral amygdala (50%) and ventroposterior thalamic nucleus (49%). The present data suggest that alterations in BDZ and mu-receptor binding could be associated with the higher excitability observed in animals with triiodothyronine (T(3)) deficiency. 相似文献
86.
Thyroid function tests were carried out on 320 children with Down's syndrome aged between 5 d and 10 y. Thyroid function was normal in 230 patients (71.9%) and abnormal in 90 (28.1%). Six patients (1.8%) had primary congenital hypothyroidism, one patient had acquired hypothyroidism and two had transient hyperthyrotropinaemia of the newborn. Sixteen of the remaining 81 patients (25.3%) had compensated hypothyroidism with increased thyroid-stimulating hormone (TSH) levels (11-20 mU l -1 ). Their T 4 levels were found to be either normal or close to the lower limit of normal. These cases were started on thyroxine therapy. Sixty-five of the 81 patients had a mild compensated hypothyroidism with mild TSH elevation (6-10 mU l -1 ). None of the patients had hyperthyroidism. The antithyroid antibodies were positive in the acquired hypothyroidism case.
Conclusion: The prevalence of congenital hypothyroidism was 1.8% in children with Down's syndrome while 25.3% of them had compensated hypothyroidism. It is suggested that Down's syndrome patients with normal thyroid functions and those with compensated hypothyroidism should be followed annually and every 3 mo, respectively. Besides congenital hypothyroidism cases, those with TSH levels between 11 and 20 mU l -1 may benefit from treatment with low-dose thyroxine. 相似文献
Conclusion: The prevalence of congenital hypothyroidism was 1.8% in children with Down's syndrome while 25.3% of them had compensated hypothyroidism. It is suggested that Down's syndrome patients with normal thyroid functions and those with compensated hypothyroidism should be followed annually and every 3 mo, respectively. Besides congenital hypothyroidism cases, those with TSH levels between 11 and 20 mU l -1 may benefit from treatment with low-dose thyroxine. 相似文献
87.
Although there is a continuing clinical interest in the radiological determination of skeletal development in children below one year of age, none of the existing methods is particularly appropriate. We have therefore developed a new and simple method of assessment. This takes into account the dose of radiation and the two aspect of size and maturity of the skeleton; and so we choose to study the lateral view of the tarsus. The calcaneus and talus are ossification centers appearing before birth. The sum of length and height of these centers constitutes the first part of the assessment. The second part of our evaluation includes an appraisal of the cuboid, the third cuneiform and the distal epiphyses of tibia and fibula. For practical purposes we have chosen to relate the two different aspects of skeletal maturity which we have assessed to the weight of the baby. 相似文献
88.
Two sellar configurations have been noted in primary childhood hypothyroidism. In the older child the sella appears unusually round and slightly enlarged, and the term cherry sella has been used to describe its appearance. Enlargement is due to rebound hypertrophy of the pituitary gland and is reversible with adequate, early treatment. If reversal of these changes is not accomplished one should consider the possibility of an adenoma having developed. In the young child and infant the sella appears more immature and bowl-like. Enlargement is not a prominent feature in this age group, and indeed was difficult to detect with certainty. Both configurations, but especially the cherry sella of the older child, are characteristic enough to enable one to suggest the diagnosis of primary hypothyroidism from lateral skull films. 相似文献
89.
Sarah Muirhead 《Paediatrics & child health》2001,6(4):195-199
Thyroid disease is a common paediatric disorder that affects up to 3.7% of school-aged children, and it usually presents with a goitre. By far, the most frequent cause of a goitre is autoimmune thyroid disease, although a benign colloid goitre is also a common cause. The present review focuses on the diagnostic approach to a child with a hypothyroid, hyperthyroid or euthyroid goitre. 相似文献
90.
目的 观察甲状腺功能亢进症(甲亢)、甲状腺功能减退症(甲减)及正常人血清饥饿素和瘦素水平,并探讨它们与甲状腺功能的关系.方法 采用放射免疫分析法分别检测46例未接受治疗甲亢患者(甲亢A组)、15例131I治疗有效的甲亢患者(甲亢B组)、21例甲减患者和18例正常对照者血清饥饿素及瘦素水平,同时采用全自动化学发光免疫分析法检测血清游离三碘甲腺原氨酸(FT3)、游离甲状腺素(FT4)、促甲状腺素(TSH)水平.结果 (1)甲亢A组的血清饥饿素水平明显低于甲亢B组(t=3.21,P<0.01)、甲减组(t=3.02,P<0.01)和正常对照组(t=3.39,P<0.01);甲亢B组、甲减组和正常对照组之间的血清饥饿素水平比较无显著差异.(2)甲亢A组血清瘦素水平与甲亢B组、甲减组和正常对照组比较无显著差异;甲亢B组、甲减组和正常对照组之间的血清瘦素水平比较无显著差异.(3)血清饥饿素水平与血清兀FT3(r=-0.29,P<0.05)和FT4(r=-0.26,P<0.05)呈负相关,与TSH呈正相关(r=0.36,P<0.05);血清瘦素水平与血清FT3、FT4和TSH无显著相关性.结论 血清饥饿素水平在不同甲状腺功能状态下不同,并与甲状腺激素水平有一定的相关性,而血清瘦素无此作用. 相似文献