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Congenital Hypothyroidism (congenital + hypothyroidism)
Selected AbstractsSEASONALITY IN THE INCIDENCE OF CONGENITAL HYPOTHYROIDISM IN JAPANJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 7 2005Dr Makiko Nakamizo PhD No abstract is available for this article. [source] Original Article: Long-term stability of thyroid hormones and DNA in blood spots kept under varying storage conditionsPEDIATRICS INTERNATIONAL, Issue 4 2010Asmahan A. EL Ezzi Abstract Background:, Congenital hypothyroidism is screened using blood spotted on filter paper that may be transported from remote areas to central testing facilities. However, storage conditions and transportation may affect sample quality. Methods:, We examined long-term stability of thyroid-stimulating hormone (TSH) and thyroxin (TT4) in blood spotted on filter paper, which was stored at room temperature (RT), 4°C and ,20°C under continuous or intermittent power supply (six hours on and six hours off around the clock.) Hormone levels in the discs were measured periodically for up to ten years. Extraction of DNA from blood spots and polymerase chain reaction were performed. Results:, Our results showed that TT4 was stable for up to 6.1, 5.34 and 5.16 years when stored at ,20°C, 4°C and RT, respectively. TSH was stable for up to 2.7 years at RT, and for up to 6.5 and 4.1 years when stored at ,20°C and 4°C, respectively, under continuous power supply. However, under intermittent power supply, TSH was stable for up to 3.8 and 2.5 years when stored at 4°C and ,20°C, respectively. Mitochondrial cytochrome oxidase and sex-determining region of Y chromosome genes were successfully amplified from DNA extracted from the blood spots. Conclusion:, Our data indicate that TT4 and TSH are most stable in blood spots stored at ,20°C under continuous power supply. However, they can be stored at RT or at 4°C and ,20°C under interrupted power supply for at least 2.5 years. Moreover, the DNA extracted from the blood spots was intact and suitable for genetic studies. [source] Thyroid function abnormalities among first-degree relatives of Iranian congenital hypothyroidism neonatesPEDIATRICS INTERNATIONAL, Issue 3 2010Mahin Hashemipour Abstract Background:, Congenital hypothyroidism (CH) is a relatively common metabolic disease in neonates. Until recent years the disorder was usually regarded as occurring in a sporadic manner. Over the past few years, however, a considerable proportion of familial cases have been identified, and possible roles of autoimmune factors suggested. The aim of the present study was to evaluate abnormality of thyroid function tests in first-degree relatives of CH neonates and compared this to the normal population. Methods:, From 2002 until 2007 thyroid function tests (T4 and thyroid-stimulating hormone [TSH]) were done in randomly selected CH and normal neonates (n= 194 and n= 350, respectively) and their first-degree relatives. Most mothers of the CH neonates and control groups were also evaluated for thyroid peroxidase antibody (TPOAb). Results:, Thyroid function test in first-degree relative of neonates with CH (361 parents, 136 siblings) were compared with those in control groups (665 parents, 478 siblings). Abnormal thyroid function tests were found in 85 patients in the CH group versus 96 patients in the control group; hypothyroidism was found in 75 (15.1%) and 57 subjects (5%) person in the CH and control groups, respectively (P < 0.05). Positive TPO antibody was found in 22 mothers (17.3%) of CH neonates in comparison with 65 mothers (32.5%) of control groups (P < 0.05). Frequency of hyperthyroidism in parents of control group had trend to be higher than parents of CH neonates (P= 0.05) Conclusion:, Familial and genetic components play a role in inheritance of CH, but maternal thyroid autoimmunity may not play an important role in the development of CH in Iran. [source] Incidence of iodine deficiency in Turkish patients with congenital hypothyroidismPEDIATRICS INTERNATIONAL, Issue 3 2008Olcay Evliyao Abstract Background: Turkey is located in an area of mild to moderate iodine deficiency. The aim of the present study was to investigate the incidence of iodine deficiency in patients with congenital hypothyroidism. Methods: Twenty five patients with a median age of 12 days (6 days,6 months) at diagnosis and followed for a median time of 7 months (1,60 months) were enrolled in the study. Thyroid function tests, thyroid scintigraphy, ultrasonography and urine iodine measurements of the patients and mothers were performed. Results and conclusion: Congenital hypothyroidism was diagnosed within postnatal day 13, between days 13 and 30, and after 30 days of age in 68%, 20% and 12% of the patients, respectively. At the time of diagnosis mean serum thyroid-stimulating hormone and total T4 were 85.3 ± 27.6 mIU/L and 3.9 ± 2.8 ,g/dL, respectively. Incidence of iodine deficiency was 36% in the patients (median, 110 ,g/L) and 88% in the mothers (median, 40 ,g/L). Thyroid scintigraphy and ultrasound were normal in all of the patients with iodine deficiency. At scintigraphic evaluation, thyroid gland was not visualized in 28% of patients; in the patients whose thyroid glands were not visualized scintigraphically thyroid ultrasonography indicated agenesis in 57%, and hypoplasia in 43%. In all the patients with thyroid agenesis or hypoplasia iodine levels were normal. In 36% of the patients imaging studies of thyroid gland and urine iodine measurements were normal. Despite salt iodization program, incidence of iodine deficiency is still high in patients with congenital hypothyroidism and mothers. National measures are urgently required for correction of iodine deficiency in Turkey. [source] Developmental delay and unstable state of the testes in the rdw rat with congenital hypothyroidismDEVELOPMENT GROWTH & DIFFERENTIATION, Issue 4 2004Yasuhiro Sakai From the present study of the rdw rat, it is clear that the thyroid hormone is essential for the development and maintenance of the testes. In previous studies, the thyroid hormone has few serious effects on the testes except during the neonatal stage when the thyroid hormone receptor is mainly present. However, there is little knowledge concerning the prolonged effect of thyroid hormone deficiency throughout the rat's life span. In the present study, a morphological analysis was performed on the testes of rdw rats with congenital hypothyroidism. The rdw testes required a longer time to develop into the normal adult structure. Moreover, the developed, normal structure began to degenerate after full maturation. Specific characteristics of the rdw testes include: (i) a prolonged proliferation of Sertoli cells during postnatal development; (ii) a developmental delay in the appearance of spermatocytes and spermatid; (iii) direct contact with each other for both spermatocytes and spermatids, without Sertoli cell cytoplasm completely intervening between adjacent germ cells; (iv) subsequent apoptosis of germ cells after maturation; (v) reduction in the height of the seminiferous epithelium; and (vi) lower testosterone levels in the rdw rats, especially during old age. Thus, we conclude that the thyroid hormone plays an important role in developing and maintaining normal function of testes. [source] Universal newborn screening and adverse medical outcomes: A historical noteDEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 4 2006Jeffrey P. Brosco Abstract Universal newborn screening programs for metabolic disorders are typically described as a triumph of medicine and public policy in the US over the last 50 years. Advances in science and technology, including the Human Genome Project, offer the opportunity to expand universal newborn screening programs to include many additional metabolic and genetic conditions. Although the benefits of such screening programs appear to outweigh their costs, some critics have claimed that historical examples of inadvertent harm ensuing from false-positive screening results and subsequent inappropriate medical treatment should make us wary of expanding universal newborn screening. In this essay, we report the results of a review of the published literature to assess whether the extension of screening from at risk populations to all newborns led to substantial morbidity and mortality from misguided medical treatment. We provide a historical overview of universal newborn screening programs in the United States, and then focus on six early NBS programs: congenital hypothyroidism, phenylketonuria, congenital adrenal hyperplasia, galactosemia, sickle cell disease, and maple syrup urine disease. Our comprehensive search of published sources did not reveal a widespread problem of harm ensuing from medical treatment of children with false positive screening test results. © 2006 Wiley-Liss, Inc. MRDD Research Reviews 2006;12:262,269. [source] NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome",HUMAN MUTATION, Issue 2 2010Loïc Guillot Abstract NKX2-1 (NK2 homeobox 1) is a critical regulator of transcription for the surfactant protein (SP)-B and -C genes (SFTPB and SFTPC, respectively). We identified and functionally characterized two new de novo NKX2-1 mutations c.493C>T (p.R165W) and c.786_787del2 (p.L263fs) in infants with closely similar severe interstitial lung disease (ILD), hypotonia, and congenital hypothyroidism. Functional analyses using A549 and HeLa cells revealed that NKX2-1-p.L263fs induced neither SFTPB nor SFTPC promoter activation and had a dominant negative effect on wild-type (WT) NKX2-1. In contrast,NKX2-1-p.R165W activated SFTPC, to a significantly greater extent than did WTNKX2-1,whileSFTPB activation was only significantly reduced in HeLa cells. In accordance with our in vitro data, we found decreased amounts of SP-B and SP-C by western blot in bronchoalveolar lavage fluid (patient with p.L263fs) and features of altered surfactant protein metabolism on lung histology (patient with NKX2-1-p.R165W). In conclusion, ILD in patients with NKX2-1 mutations was associated with altered surfactant protein metabolism, and both gain and loss of function of the mutated NKX2-1 genes on surfactant protein promoters were associated with ILD in "Brain-Lung-Thyroid syndrome". © 2009 Wiley-Liss, Inc. [source] Timing of Thyroid Hormone Action in the Developing Brain: Clinical Observations and Experimental FindingsJOURNAL OF NEUROENDOCRINOLOGY, Issue 10 2004R. T. Zoeller Abstract The original concept of the critical period of thyroid hormone (TH) action on brain development was proposed to identify the postnatal period during which TH supplement must be provided to a child with congenital hypothyroidism to prevent mental retardation. As neuropsychological tools have become more sensitive, it has become apparent that even mild TH insufficiency in humans can produce measurable deficits in very specific neuropsychological functions, and that the specific consequences of TH deficiency depends on the precise developmental timing of the deficiency. Models of maternal hypothyroidism, hypothyroxinaemia and congential hyperthyroidism have provided these insights. If the TH deficiency occurs early in pregnancy, the offspring display problems in visual attention, visual processing (i.e. acuity and strabismus) and gross motor skills. If it occurs later in pregnancy, children are at additional risk of subnormal visual (i.e. contrast sensitivity) and visuospatial skills, as well as slower response speeds and fine motor deficits. Finally, if TH insufficiency occurs after birth, language and memory skills are most predominantly affected. Although the experimental literature lags behind clinical studies in providing a mechanistic explanation for each of these observations, recent studies confirm that the specific action of TH on brain development depends upon developmental timing, and studies informing us about molecular mechanisms of TH action are generating hypotheses concerning possible mechanisms to account for these pleiotropic actions. [source] Economic evaluation of neonatal screening for phenylketonuria and congenital hypothyroidismJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 11 2005EA Geelhoed Objective: To evaluate the costs and benefits of neonatal screening for phenylketonuria (PKU) and congenital hypothyroidism (CH). Neonatal screening for PKU and CH is common throughout the developed world. It represents a model of preventive care in that the screening procedure is simple and intellectual disability is otherwise irreversible. Changes in treatment and care, and in particular the advent of maternal PKU, require regular evaluation of a programme that also impacts on a large healthy population. Method: Costs of screening were based on the programme provided within Western Australia. Costs averted were derived using patterns of care currently adopted in Western Australia and applied according to historical patterns of intellectual disability for each condition. Results: A net saving of $A2.9 million is attributable to the programme annually. The economic benefits derive from the prevention of intellectual disability which otherwise incurs costs throughout the life of the affected individual. Maternal PKU represented a minor proportion of overall costs. Sensitivity analysis showed that the cost savings were robust, given changes in the levels of intellectual disability, but varied according to the discount rate. The result of a net saving was evident under all assumptions. Conclusion: Neonatal screening for PKU and CH is a cost saving use of resources and the emergence of maternal PKU has not had a significant effect on the economic outcomes. [source] Intellectual disability in Western AustraliaJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 3 2000C Bower Objective: To investigate the prevalence of intellectual disability in Western Australia (WA), its causes, prevention, and trends over time. Methodology: Data from an administrative database of intellectual disability in WA were used to report on the trends in intellectual disability in childhood. Results: The prevalence of intellectual disability was 8.3 per 1000 live births in 1980,90. For half the cases, there was no known cause for the intellectual disability. Down syndrome accounted for 14 to 15% of all cases. Since the introduction of newborn screening, no WA-born child participating in the screening program has been diagnosed with intellectual disability as a result of either phenylketonuria or congenital hypothyroidism. The rate of autism spectrum disorders rose from three to six per 10 000 in the 1980,83 WA birth cohort to 10,13 per 10 000 for the 1989,92 cohort. Conclusions: Recent linkage of this administrative database to the WA Maternal and Child Health Research Data Base provides a unique opportunity for more detailed investigation of intellectual disability and its risk factors in a large, well-ascertained population of children. [source] Cord blood thyroid-stimulating hormone and free T4 levels in Turkish neonates: Is iodine deficiency still a continuing problem?PEDIATRICS INTERNATIONAL, Issue 5 2010Fatih K Abstract Background:, The objectives of this study were to determine the cord blood thyroid-stimulating hormone (TSH) and free T4 (FT4) levels in Turkish neonates and to determine whether these variables reveal iodine deficiency. Methods:, We collected 818 cords from healthy mothers at parturition and measured levels of FT4 and TSH. We also measured cord blood FT4 and TSH levels in different stages of gestation and gender. We grouped the neonates according to cord serum TSH levels, either being less (Group A) or greater (Group B) than 10 mIU/L. Group A included 589 neonates (300 girls [51%] and 289 boys [49%]) and Group B included 229 neonates (105 girls [45%] and 124 boys [55%]). Results:, The percentage of subjects with cord blood TSH < 10 mIU/L and >10 mIU/L was 72% and 28%, respectively. Although cord TSH levels in Group B were greater than those in Group A (P < 0.001), cord blood FT4 levels in Group B were lower than those in Group A (P < 0.05). There was no difference between both sex in terms of birthweight and maternal age. TSH and FT4 levels did not vary according to neonate sex during gestation, except for from week 37 to 41. TSH levels of male neonates at the 41st week of gestation were higher than those of female neonates (P < 0.05). There were no effects of birthweight on TSH and FT4 levels if the neonate was lighter than 2500 g at birth. TSH levels of male neonates were higher than those of female neonates when their birthweights were <2500 g (P < 0.05). There was no significant difference in TSH levels according to birthweights in male neonates. Conclusion:, Our data provide the normative data for cord blood TSH and FT4 levels in Turkish neonates and show that iodine deficiency is a still a public health problem in Turkey. These measurements can be useful for detection and verification of hypothyroidism in a screening program for congenital hypothyroidism as well as evaluation of the success of the iodination program. [source] Quality of life of young adults with congenital hypothyroidismPEDIATRICS INTERNATIONAL, Issue 1 2009Hirokazu Sato Abstract Background:, The aim of the present study was to investigate health-related quality of life (HRQOL) and the living conditions of young adults with congenital hypothyroidism (CH) detected on newborn screening. Method:, Among medical institutions that care for CH patients in Japan and were approached to in the present study, 78 institutions agreed to participate. The World Health Organization Quality of Life-26 (WHO/QOL-26) was used for measurement of HRQOL. CH patients who gave consent after receiving an explanation from their physicians filled in questionnaires at home and sent them by mail. This survey involved 51 CH patients (15 male; 36 female) whose mean age was 21.1 ± 2.7 years (±SD; range, 18,27 years). The data from WHO/QOL-26 forms completed by 43 patients (12 male; 31 female) were compared with those for healthy individuals. Results:, Mean WHO/QOL-26 scores were 3.51 ± 0.43 for male patients and 3.59 ± 0.42 for female patients, and there were no significant differences between them and healthy individuals (men, 3.32 ± 0.42; women, 3.35 ± 0.49). No significant difference was observed between patients and healthy individuals on any domain of the WHO/QOL-26. Their degree of educational attainment was not poor. Conclusions:, The HRQOL of young adults with CH detected on newborn screening was not poor. [source] Incidence of iodine deficiency in Turkish patients with congenital hypothyroidismPEDIATRICS INTERNATIONAL, Issue 3 2008Olcay Evliyao Abstract Background: Turkey is located in an area of mild to moderate iodine deficiency. The aim of the present study was to investigate the incidence of iodine deficiency in patients with congenital hypothyroidism. Methods: Twenty five patients with a median age of 12 days (6 days,6 months) at diagnosis and followed for a median time of 7 months (1,60 months) were enrolled in the study. Thyroid function tests, thyroid scintigraphy, ultrasonography and urine iodine measurements of the patients and mothers were performed. Results and conclusion: Congenital hypothyroidism was diagnosed within postnatal day 13, between days 13 and 30, and after 30 days of age in 68%, 20% and 12% of the patients, respectively. At the time of diagnosis mean serum thyroid-stimulating hormone and total T4 were 85.3 ± 27.6 mIU/L and 3.9 ± 2.8 ,g/dL, respectively. Incidence of iodine deficiency was 36% in the patients (median, 110 ,g/L) and 88% in the mothers (median, 40 ,g/L). Thyroid scintigraphy and ultrasound were normal in all of the patients with iodine deficiency. At scintigraphic evaluation, thyroid gland was not visualized in 28% of patients; in the patients whose thyroid glands were not visualized scintigraphically thyroid ultrasonography indicated agenesis in 57%, and hypoplasia in 43%. In all the patients with thyroid agenesis or hypoplasia iodine levels were normal. In 36% of the patients imaging studies of thyroid gland and urine iodine measurements were normal. Despite salt iodization program, incidence of iodine deficiency is still high in patients with congenital hypothyroidism and mothers. National measures are urgently required for correction of iodine deficiency in Turkey. [source] Relationship between serum leptin and thyroid hormones in childrenPEDIATRICS INTERNATIONAL, Issue 3 2000MAKOTO UCHIYAMA, Tadashi Asami TATIANA CIOMARTEN Abstract Background: Because leptin decreases food intake and increases energy expenditure, the possible influence of thyroid status on the leptin system has been investigated mainly in adults and animals. However, the data available at present are very confusing. The aim of the present study was to assess the possible interaction of thyroid hormones with the leptin system. Methods: Serum free thyroxine (FT4), a biologically active thyroid hormone, and thyroid stimulating hormone (TSH), a sensitive and reliable index of thyroid status, were examined in 51 children (19 males, 32 females) with mass screening-detected congenital hypothyroidism on continuous L -thyroxine (L-T4) substitution therapy. The subjects were divided into younger (n=35, aged 1 month , 5 years) and older (n=16, 6 years , 11 years) children groups. Serum levels of leptin and thyroid hormones were measured in the subjects. Body mass index (BMI) was estimated by the formula bodyweight (kg)/height`height (m 2), which is known as the Kaup index in younger children and BMI in older children and adults. Results: In the younger children group, serum leptin levels showed no correlation with serum TSH, FT4 or T4. In the older children group, serum leptin concentrations significantly correlated with T4 (r=0.510, P<0.05) and BMI (n=16, r=0.647, P<0.01), but not with TSH or FT4. Conclusion: The role of thyroid hormones in modulating leptin synthesis and secretion seems to have little, if any, clinical or biological relevance. [source] Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four childrenACTA PAEDIATRICA, Issue 6 2009Diemud Simm Abstract We report four children originating from two unrelated German families with congenital hypothyroidism (CH) due to mutations in the thyroid peroxidase (TPO) gene. Three female siblings (family 1) were found to be compound heterozygous for two mutations, a known mutation in exon 9 (W527C), and a mutation in exon 8 (Q446H), which has not been described before. In the second family we identified a boy with goitrous CH, who had a novel homozygous mutation in the TPO gene in exon 16 (W873X). All children of family 1 were diagnosed postnatally by newborn screening. The case of the boy of family 2 has already been reported for the in utero treatment of a goiter with hypothyroidism. Conclusion: Our results confirm existing data on the phenotypic variability of patients with TPO gene mutations. [source] A novel therapeutic paradigm to treat congenital hypothyroidismCLINICAL ENDOCRINOLOGY, Issue 1 2008Sarah Mathai Summary Objective, To determine the effectiveness of a novel therapeutic paradigm to treat congenital hypothyroidism (CH) incorporating variable initial doses of L-T4 based on the underlying aetiology and frequent monitoring, up to 2 years of age. Design, Retrospective cohort study. Patients, Infants with primary CH diagnosed by newborn screening. Measurements, Treatment with L-T4 suspension initiated at 10, 12 and 15 µg/kg/day for dyshormonogenesis, ectopia and athyreosis, respectively. Serum TSH and free T4 (FT4) levels monitored weekly during the first 4 weeks, at 6 weeks, thereafter monthly during the first 2 years. Dose changes were made to keep FT4 level in upper half of the normal range. Results, Sixty-nine infants; 17 had dyshormonogenesis, 35 ectopia and 17 athyreosis. Seventy-eight percent of subjects normalized FT4 levels within 7 days of treatment and 100% within 14 days. TSH levels normalized in 26% of infants within 7 days and in 92% by 21 days. Supraphysiological levels of FT4 were noted in 28% of infants, for a maximum of 2 weeks. 48% infants needed one dose adjustment and 30% needed at least two in the first month. In 52 infants over the first 2 years, mean FT4 levels were consistently in the upper half of the normal range. Two or more dose adjustments every 3 months were made 57 times in the first year as compared to 19 times in the second year. Conclusions, A variable initial dose paradigm based on aetiology with frequent testing and using T4 suspension rapidly normalizes FT4 levels without producing persistent hyperthyroxinaemia. [source] Factors predicting final height in early treated congenital hypothyroid patientsCLINICAL ENDOCRINOLOGY, Issue 5 2006Maurizio Delvecchio Summary Objective, To evaluate pubertal development and final height (FH) in early treated patients with congenital hypothyroidism (CH) and to identify the main factors predicting FH. Design, Retrospective. Patients, Eighty-five patients with early diagnosed and treated CH. Measurements, Evaluation of length/height at diagnosis (mean age 26·6 days), at onset of puberty, and at the end of linear growth. Results, Mean FH was 161·7 cm in females and 173·8 cm in males, within ± 0·9 cm of the 50th percentile of Italian growth charts, 5 cm higher than the mean target height (TH). Linear growth did not differ according to thyroid imaging findings. In males, height at onset of puberty was 0·16 standard deviation score (SDS), not statistically different from FH (,0·09 SDS). In females, height both at onset of puberty (0·39 SDS) and at menarche (0·57 SDS) was significantly higher (P < 0·001) than FH (,0·10 SDS). Puberty started at a mean chronological age of 10·2 and 11·6 years in females and males, respectively, with a corresponding bone age. FH correlated with TH and height at diagnosis, at onset of puberty, and at menarche. Multiple regression analysis showed that height at onset of puberty and TH are the most important factors explaining FH variability, although height at onset of puberty is slightly more important. Conclusions, Our results, obtained in the largest reported available group of congenital hypothyroid patients, show that final height is higher than target height in both sexes and that height at onset of puberty is the main factor affecting final height. [source] Head circumference and linear growth during the first 3 years in treated congenital hypothyroidism in relation to aetiology and initial biochemical severityCLINICAL ENDOCRINOLOGY, Issue 1 2004Sze May Ng Summary aims, To determine the head circumference and linear growth in children with congenital hypothyroidism (CH) during the first 3 years of life in relation to the aetiology of CH and initial biochemical severity of thyroid function. methods, We examined the head circumference and linear growth of 125 patients with CH from diagnosis up to 3 years of age. All infants had radionuclide scans prior to treatment. Patients were categorized into athyreosis, ectopia and dyshormonogenesis. Occipito-frontal circumference (OFC) SD, length SD, initial plasma TSH, initial plasma thyroxine (T4) and age of suppression of plasma TSH were compared between the groups. Multiple linear regression analysis was used to determine factors affecting OFC SD at 3 years of age. results, There were 125 children in the study: athyreosis (n = 34), ectopia (n = 73) and dyshormonogenesis (n = 18). No difference was found in gestation, birth weight, age of starting L-T4 and initial dose of L-T4 in mcg/kg/day between groups. Confirmatory plasma total T4 at diagnosis was significantly lower for athyreosis when compared with ectopia and dyshormonogenesis. Median values for confirmatory TSH were significantly lower in dyshormonogenesis compared with the other two groups. At diagnosis, OFC were similar in all three groups. Children with athyreosis showed significantly larger OFCs compared with ectopia and dyshormonogenesis from 1 to 3 years. Length SD was within 1 SD of normal population standards at diagnosis and did not differ between the three groups throughout the 3 years. Spearman's correlation for OFC SD at 3 years of age showed a significant negative correlation with initial confirmatory plasma T4 (r = ,0·35, P = 0·01). Multivariate analysis for OFC SD at 3 years of age showed confirmatory T4 as the only independent risk factor. conclusion, Children with athyreosis showed significantly larger OFC from 1 to 3 years of age compared with ectopia and dyshormonogenesis, independent of linear growth. Our data shows that initial confirmatory T4 at diagnosis is an independent factor influencing head growth in the first 3 years of life. [source] Severe hypothyroidism due to atrophic thyroiditis from second year of life influenced developmental outcomeACTA PAEDIATRICA, Issue 8 2005JV Joergensen Abstract From the second year of life a girl showed an insidious development of clinical hypothyroidism due to a non-goitrous lymphocytic thyroiditis without traceable circulating levels of thyroid antibodies measured by routine immunoassays. The diagnostic delay of this rare variant of atrophic thyroiditis caused persistent neuropsychological deficits. Conclusion: Her difficulties with speed of processing and working memory in particular could suggest a frontal deficit, possibly in the dorsolateral prefrontal circuit. This contrasts with findings in congenital hypothyroidism, suggesting a relatively preserved frontal function, and could illustrate different neuropsychological deficits of hypothyroidism at different ages in early childhood. [source] Recombinant human TSH testing is a valuable tool for differential diagnosis of congenital hypothyroidism during l -thyroxine replacementCLINICAL ENDOCRINOLOGY, Issue 2 2003Laura Fugazzola Summary objective The differential diagnosis of congenital hypothyroidism (CH) is aimed to distinguish transitory from permanent forms, to optimize l-thyroxine (l-T4) therapy to replacement or TSH-suppressive regimens, and to reach accurate definition of the clinical and biochemical phenotype for subsequent genetic investigations and counselling. Therefore, l -T4 therapy is presently withdrawn in most instances and investigations are performed in a disturbing hypothyroid state. design The availability of recombinant human TSH (rhTSH) prompted us to assess its efficacy in the differential diagnosis of CH during l-T4 therapy. patients and measurements Eight adult patients with permanent CH remained on l -thyroxine and underwent a new protocol for rhTSH (Thyrogen®) testing with injections [4 g/kg/day intramuscularly (i.m.)] at days 1, 2 and 3. At day 3, 123I was administered and uptake obtained after 2 and 24 h. Serum TSH and thyroglobulin (Tg) levels were measured at days 1,4. Neck ultrasound was carried out in all cases. results Serum TSH reached levels > 20 mU/l at day 2 and remained above 30 mU/l on days 3 and 4. Stimulation of Tg levels was seen in five patients with peak at day 4. Lingual thyroid was documented at scintigraphy (TS) in three Tg-responsive patients who were previously diagnosed as having thyroid agenesia. In one patient with dyshormonogenesis and high Tg, TS confirmed the presence of goitre with positive perchlorate test. TS was negative in the remaining four cases. All tests indicated complete agenesia in one, whereas a minimal Tg response was marker of nearly complete agenesia in another. The last two TS-negative patients had hypoplastic glands at ultrasound, and refractoriness to TSH stimulation was confirmed by absent Tg response. conclusions We report the first application of rhTSH for differential diagnosis of patients with permanent CH, avoiding the undesirable transient hypothyroidism consequent to l-T4 withdrawal. The data obtained led to the change of the diagnosis at presentation in 4/8 patients and to a more accurate description of the clinical picture in all patients. The proposed protocol has been proved to cause Tg increases even in the presence of small amounts of responsive thyroid cells. The rhTSH testing led to the desired disease characterization, thus allowing specific management and targeted genetic analyses. [source] Behavioural correlates of early-treated congenital hypothyroidismACTA PAEDIATRICA, Issue 10 2001L Kooistra Parents' and teachers' ratings were used to evaluate the behavioural characteristics of children with early-treated congenital hypothyroidism (CH). Comparisons were made between 63 children with early-treated CH and 34 healthy controls at the ages of 7.5 and 9.5 y. Additional comparisons were made between the two largest CH subgroups (thyroid agenesis, thyroid dysgenesis) and controls. The most marked differences were found on the introversion cluster and the motor clumsiness scale within it. Children with CH, particularly those with thyroid agenesis, showed introversion and motor clumsiness rather than social negativity and inattention. It is suggested that this behavioural profile may well have its origins in the often-reported inefficient motor behaviour of these children. Results are discussed in the light of recent findings suggesting an association between thyroid hormone problems and attention deficit hyperactivity disorder. Conclusion: Early-treated CH is associated with introversion rather than with social negativity. [source] | |||||||||||||