Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Northwest Regional Screening Program to detect congenital hypothyroidism in infants born in Oregon, Montana, Alaska, and Idaho (combined birthrate of 69,000/ yr) was added to our ongoing screening program in 1975. The program utilizes dried blood filter paper specimens collected routinely in the first few days of life in all four states and again at about 6 weeks of age in Oregon only. The screening test consist of an initial thyroxine (T4) measurement; a thyroid-stimulating hormore (TSH) determination is performed on those specimens with T4 concentrations in the lowest 3% group. Serum samples obtained by venipuncture are requested for confirmation of the diagnosis. In the first two years of the program, 25 infants with primary hypothyroidism were detected amont 110,667 infants screened, a frequency of 1:4,430. Fourteen cases of thyroxine-binding globulin deficiency were also detected, a frequency of 1:7,900. Using the T4 followed by TSH testing approach, the frequency of request for repeat specimens was 0.4% in Oregon and 0.05% in the other states. The cost per specimen was $1.96. The majority of infants lacked clinical signs or symptoms of hypothyroidism; only one infant was clinically suspected of having hypothyroidism prior to detection. The most common neonatal symptoms were constipation, lethargy, and prolonged jaundice, while the most common physical signs were hypotonia, umbilical hernia, and large fontanels. Thyroid scans showed the most common etiology to be thyroid aplasia, followed by an ectopic gland, hypoplasia, and goiter. Serum T4 concentrations were lowest in those infants with aplasia, intermediate in infants with an ectopic gland or hypoplasia, and normal in the infant with the goiter. Neonatal hypothyroidism varies in degree and has several different causes; the capacity to secrete thyroid hormone, the duration before hypothyroidism becomes clinically manifest, and possibly the eventual prognosis for intellectual function depend on the nature of the underlying cause. While the mean age at treatment was 59 days, the goal of diagnosing congenital hypothyroidism and treating affected infants by 1 month of age seems realistic.
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PMID:Neonatal hypothyroidism detected by the Northwest Regional Screening Program. 10 59

In this retrospective investigation, 1000 cases of congenital hypothyroidism followed-up in the Pediatric Endocrinology Unit at Hacettepe University Children's Hospital between 1964-1989 were evaluated with respect to age at diagnosis, main complaints, symptoms and physical findings. The mean age at diagnosis was 49.22 months, with 55.4 percent of patients diagnosed after two years of age and only 3.1 percent during the neonatal period. The main complaints of the patients were growth failure (26.7%), inability to speak (21.4%), and inability to walk (18.1%). The physical signs and symptoms most commonly detected by the physician were hypotonia (72%), constipation (66.8%), cretinoid face (64.6%), and macroglossia (64.6%). These results emphasize the necessity for routine neonatal screening programs to be established in Turkey, with the aim of detecting congenital hypothyroidism.
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PMID:Congenital hypothyroidism in Turkey: a retrospective evaluation of 1000 cases. 130 38

Congenital hypothyroidism is a relatively common endocrine disorder, affecting one in 4000 newborn infants. Undiagnosed and untreated congenital hypothyroidism will result in un-toward consequences, including mental retardation and other significant neurologic sequelae. For these reasons, programs to screen newborns were developed to detect congenital hypothyroidism before clinical features become obvious enough to suggest the diagnosis. The most common clinical features include prolonged jaundice, skin mottling, hypotonia, umbilical hernia, constipation, and macroglossia. Congenital hypothyroidism may be caused by several different disorders; ectopic thyroid glands represent the most common cause. There is accumulating evidence that autoimmune thyroid disease as manifested by TBII may be the cause of thyroid dysgenesis in some cases. The diagnosis is easily confirmed by finding a low serum free T4 or total T4 and elevated serum TSH concentration. The treatment of choice is levothyroxine; these infants must be followed carefully to ensure normal growth and development and maintenance of serum T4 and TSH within the normal ranges. With appropriate treatment and follow-up, the large majority of these infants have an excellent prognosis, with an IQ no different from comparison populations. However, it appears that there is still a small percentage of infants who are the most severely affected, who manifest the lowest serum T4 levels, thyroid aplasia, and retarded bone ages, and who may run the highest risk for some degree of retardation and other neurologic sequelae. Acquired hypothyroidism is also a relatively common disorder, occurring in one in 500 to one in 1000 school-age children. These children most commonly have a slowdown in growth, short stature, a goiter, and a drop in school performance. Other clinical features may be subtle or absent except in more severe or long-standing cases. The most common cause is chronic lymphocytic thyroiditis. The diagnosis is easily established by finding low serum-free T4 or total T4 and elevated serum TSH concentrations. Again, levothyroxine is the treatment of choice. With appropriate treatment and follow-up, all clinical features that develop after age 3 should be reversible and the prognosis should therefore be very good.
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PMID:Diagnosis and treatment of hypothyroidism in children. 331 7

Congenital hypothyroidism (CHT) produces few and vague clinical signs during the first few weeks of life, when it is still possible to prevent irreparable brain damage. In the Finnish national screening programme for CHT, treatment is started at a median age of 6 days. According to multiple logistic regression analysis based on 102 cases, the main manifestations of CHT at this age are retardation of skeletal maturation and growth in length, icterus, large tongue, abdominal distension, skin mottling, muscle hypotonia and probably increased head size. The presence of other signs did not increase the probability of CHT. All signs are non-specific and some of the hypothyroid infants did not have any of them. Control of other confusing perinatal problems improved the diagnostic scoring but this did not increase the accuracy of prediction acceptably.
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PMID:Manifestations of congenital hypothyroidism during the 1st week of life. 339 Dec 21

Neurological examinations were made of 67 children and adults with congenital iodine-deficiency disorder (endemic cretinism) in four rural villages in highland Ecuador. There was a distinct and readily identifiable pattern of neurological deficits. These included, to varying degrees: deaf-mutism or lesser degrees of bilateral hearing-loss or dysarthria; spasticity, particularly involving the proximal lower extremities; mental deficiency of a characteristic type; and rigidity and bradykinesia. Not all of these elements were found in all cases. Less common features were strabismus, kyphoscoliosis and frontal-lobe signs. There were exceptional cases with hypotonia. In contrast, cerebellar function was largely spared, as were functions of emotion and attention, vegetative and autonomic functions, social interaction, and probably memory, except in the most severely involved.
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PMID:Neurological signs in congenital iodine-deficiency disorder (endemic cretinism). 401 26

Growth charts of five children with Prader-Labhart-Willi syndrome were examined. Clinical diagnosis was based on usual features of this condition. These included hypotonia in infancy, obesity, mental retardation, short stature, undescended testes in boys and typical physical features. Extensive investigations have failed to reveal pathognomonic abnormalities in this syndrome. Obesity and failure to thrive, beginning in early infancy and increasing with age is a precocious and typical feature. This pattern helps to early diagnosis. Only congenital hypothyroidism could show a similar pattern.
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PMID:[Body growth in the early diagnosis of Prader-Labhart-Willi syndrome]. 687 76

The approach to the etiology of neuropsychiatric disorders can be made by different ways. Among them, the role of thyroid hormones is considered prominent nowadays. The authors report the case of a five year-old boy with congenital hypothyroidism in association with developmental disorders which were manifested by psychomotor retardation, mainly in speech, hypotonia and bilateral hearing loss. Comments are made on the role of hormonal control for a good clinical response, particularly on attention and psychomotor activity.
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PMID:[Thyroid hormones in the symptomatology of neuropsychiatric diseases. Report of a case]. 789 22

Young-Simpson syndrome is a rare congenital disorder, characterized by congenital hypothyroidism, congenital heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation, and postnatal growth retardation. We describe the cases of a 5-year-old boy and a 7-year-old girl with a similar constellation of symptoms and compared them with previously reported patients.
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PMID:Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation. 1021 38

We report a 1 year-old female patient with severe hypotonia who has congenital hypothyroidism and Prader-Willi syndrome (PWS). At birth she was found to have congenital hypothyroidism caused by an ectopic sublingual thyroid gland and was commenced on thyroid replacement therapy. She continued to have severe motor delay and therefore further diagnostic evaluation was performed. PWS was confirmed by DNA and fluorescence in situ hybridization (FISH) analysis. This report emphasizes the need to further investigate patients who are found to have congenital hypothyroidism and do not improve adequately on treatment.
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PMID:Congenital hypothyroidism with Prader-Willi syndrome. 1182 75

The occurrence of neurological symptoms and developmental delay in patients affected by congenital hypothyroidism (CH) has been attributed to the lack of thyroid hormone in the developing CNS. Accordingly, after the introduction of neonatal screening programs for CH, which allowed early and adequate treatment, an almost normal outcome for most CH patients could be achieved. However, a few patients did not reach this favorable outcome despite early and adequate treatment. Here we describe five patients with variable degrees of CH who suffered from choreoathetosis, muscular hypotonia, and pulmonary problems, an association of symptoms that had not been described before this study. Since this clinical picture matched the phenotype of mice targeted for deletion of the transcription factor gene Nkx2-1, we investigated the human NKX2-1 gene in these five patients. We found heterozygous loss of function mutations in each of these five patients, e.g., one complete gene deletion, one missense mutation (G2626T), and three nonsense mutations (2595insGG, C2519A, C1302A). Therefore, the unfavorable outcome in patients with CH, especially those with choreoathetosis and pulmonary symptoms, can be explained by mutations in the NKX2-1 gene rather than by hypothyroidism. Moreover, the association of symptoms in the patients with NKX2-1 mutations points to an important role of human NKX2-1 in the development and function of thyroid, basal ganglia, and lung, as already described for rodents.
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PMID:Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. 1185 16


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