scholarly journals Clinical presentation of primary congenital hypothyroidism: experience before mass screening

2005 ◽  
Vol 5 (4) ◽  
pp. 26-29 ◽  
Author(s):  
Husref Tahirović ◽  
Alma Toromanović
Keyword(s):  
Congenital Hypothyroidism ◽  
Screening Program ◽  
Thyroid Tissue ◽  
Thyroid Function Tests ◽  
Thyroid Screening ◽  
Clinical Center ◽  
Age Of Diagnosis ◽  
Study Population ◽  
The Difference ◽  
Neonatal Thyroid Screening

Primary congenital hypothyroidism is a common preventable cause of mental retardation. Neonatal thyroid screening is highly successful in early diagnosis and the improvement of developmental prognosis in the hypothyroid neonate. However, rarely cases could be missed, so doctors must be aware of the earl symptoms and signs of hypothyroidism. Therefore, the purpose of this study was to emphasize the presenting clinical features of primary congenital hypothyroidism at the age of diagnosis. The study population included 17 children with primary congenital hypothyroidism who attended the Department of Pediatrics, University Clinical Center Tuzla between 1986 and 1999. The diagnosis of all patients was confirmed by serum thyroid function tests (T4 and TSH). Of the 17 patients 10 (58.8%) were diagnosed in the first three months of life and 3 of them (17.6%) between fourth and sixth month of life. Four children (23.5%) were diagnosed after the age of six months. In the first three months of life hypothermia, constipation, jaundice, poor feeding, hoarse cry, macroglossia and hypoactivity were the moste common symptoms. Among the 17 patients with primary congenital hypothyroidism 5 of them (29.4 %) were diagnosed to have disgenetic thyroid tissue and 12 (70.6%) as having dyshormonogenesis. TSH and T4 levels were higher in patients in whom thyroid tissue was dysgenetic as comapared with those with dyshormonogenesis but the difference was not statistically significant (p > 0.05). Now it is expected that neonatal screening program in Bosnia and Herzegovina Federation will contribute to the detection of primary congenital hypothyroidism in early days of life. However, until an effective screening test is not yet routine in whole country, paediatricians should consider the diagnosis of hypothyroidism whenever it is clinically suggested.

scholarly journals High Incidence of Congenital Hypothyroidism in One Region of the Republic of Macedonia

2014 ◽  
Vol 17 (1) ◽  
pp. 31-35 ◽  
Author(s):  
V. Anastasovska ◽  
Koviloska R. ◽  
Kocova M.
Keyword(s):  
Congenital Hypothyroidism ◽  
Screening Program ◽  
Thyroid Stimulating Hormone ◽  
Republic Of Macedonia ◽  
Thyroid Screening ◽  
Significant Difference ◽  
High Incidence ◽  
Screening Coverage ◽  
The Republic ◽  
Neonatal Thyroid Screening

Abstract Congenital hypothyroidism (CH) is the most common preventable cause of mental retardation in children. Diagnosis is difficult at birth without neonatal screening. Neonatal thyroid screening was established in Prilep, Republic of Macedonia as an integral part of the nationwide screening program. To estimate the prevalence of CH in this region, neonatal thyroid screening was performed on 9757 newborns, during the period 2002-2011. The DELFIA method was applied to measure the thyroid-stimulating hormone (TSH) concentration in dried blood spot samples on standard filter paper taken 48 hours after birth by heel-stick. The TSH cut-off level was 10 mU/L. The neonatal thyroid screening coverage was 93.4%. Eight newborns with CH were detected, with an incidence of 1:1220 live births, significantly higher compared to the nationwide results 1:2602. The TSH level was not significantly dependent on the gender of the newborn. There was a statistically significant difference between the TSH level and the timing of newborn screening sampling (p <0.05) and between the TSH level and the newborn birth weight (p = 0.01). One point ninety-two percent of newborns with TSH levels above 5 mU/L indicated an iodine sufficiency in Prilep. The incidence of CH in Prilep, which is higher when compared with that reported in surrounding countries, might be a consequence of the higher percentage of the Romany population in this region. Further analysis of this population in other regions is warranted.

Screening for Congenital Hypothyroidism With Specimen Collection at Two Time Periods: Results of the Northwest Regional Screening Program

PEDIATRICS ◽  
1985 ◽  
Vol 76 (5) ◽  
pp. 734-740
Author(s):  
Stephen H. LaFranchi ◽  
Cheryl E. Hanna ◽  
Patricia L. Krainz ◽  
Michael R. Skeels ◽  
Richard S. Miyahira ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Filter Paper ◽  
Age Of Onset ◽  
Screening Program ◽  
Thyroid Tissue ◽  
Cost Effective ◽  
Thyroid Stimulating Hormone ◽  
Primary Hypothyroidism ◽  
Skeletal Maturation ◽  
Second Screen

To determine the benefit of collecting two routine specimens to test for congenital hypothyroidism, we examined the results of our newborn screening program during the last 9.5 years. The Northwest Regional Screening Program (NWRSP) performs a primary thyroxine test with thyroid-stimulating hormone determinations on the lowest 10% of dried blood filter paper specimens. An initial specimen is obtained in the newborn period, and a routine second specimen is collected at approximately 4 to 6 weeks of age in all infants born in Oregon and 25% of infants born in Idaho, Montana, Alaska, and Nevada. Between May 1975 and October 1984, 182 infants with primary hypothyroidism were detected from 811,917 infants screened, a prevalence rate of 1:4,461. The routine second specimen led to the diagnosis of 19 infants of 484,604 infants screened, a detection rate of 1:25,505. When infants detected by the second screen were compared with those detected by the first screen, they had higher thyroxine and lower thyroidstimulating hormone concentrations on filter paper and serum specimens. When thyroid scanning was used, all but one infant detected by the second screen had some residual thyroid tissue, whereas 35% of infants detected by the first screen had thyroid aplasia. Skeletal maturation was more likely to be normal in infants detected by the second screen. These infants appear to have milder hypothyroidism due to a later age of onset or slower evolution of thyroid failure. At a cost of $31,881 per infant detected by the second screen, the NWRSP found it cost-effective to obtain a routine second specimen.

scholarly journals Physical and mental growth and development in children with congenital hypothyroidism: a case–control study

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Javad Nazari ◽  
Kimia Jafari ◽  
Maryam Chegini ◽  
Akram Maleki ◽  
Pari MirShafiei ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Case Control Study ◽  
Screening Program ◽  
Case Control ◽  
Healthy Children ◽  
Significant Difference ◽  
The Mean ◽  
The Difference ◽  
Children Development ◽  
Control Study

Abstract Introduction The clinical complications of congenital hypothyroidism such as brain disorders are very subtle and are not recognizable in infancy period. They are recognizable when it is too late for treatment or prevention. General screening of newborns is effective in diagnosing congenital hypothyroidism and initiating initial treatment. The aim of this study is to compare the physical and mental growth pattern of children with congenital hypothyroidism with healthy ones. Methods This case–control study was performed on 34 patients and 68 healthy children who were matched in terms of inclusion and exclusion criteria. Children development screening test (ASQ), children development assessment test (Bayley), preschool Wechsler intelligence scale (WPPSI) and age and steps questionnaire of emotional social development (ASQ-SE) were completed by trained questioners. Data were analyzed using STATA software. Results The results indicated that there was no significant difference between the mean of verbal (P = 0.77), non-verbal (P = 0.81) and general (P = 0.66) IQ in permanent and transient patients and healthy individuals. Also, there was no significant difference between the mean of different ranges of ASQ test (including communication, delicate and large movements, problem solving and social) at 12 months and 42 months (P < 0.05). According to Bayley test, there was no significant difference between the cases (permanent and transient) and controls in the cognitive (P = 0.42) and expressive (P = 0.38) categories. The difference was significant in the perceptual (P = 0.011), large (P = 0.03) and delicate (P = 0.04) movements categories. Conclusion This study emphasized on the high effectiveness of neonate hypothyroidism screening program, so that the difference between 3.5 years old children with and without this disease has decreased significantly. Early diagnosis of the patients, while creating beneficial effects for patients and increasing quality of life, cause reduction in the long-term costs of the health system.

Short Report: False-negative primary neonatal thyroid screening: the need for clinical vigilance and secondary screening

2003 ◽  
Vol 10 (1) ◽  
pp. 2-4 ◽  
Author(s):  
K A Yunis ◽  
M R Nasr ◽  
G Lepejian ◽  
S Najjar ◽  
R Daher
Keyword(s):  
Natural History ◽  
Congenital Hypothyroidism ◽  
False Negative ◽  
Thyroid Stimulating Hormone ◽  
Short Report ◽  
Thyroid Screening ◽  
Secondary Screening ◽  
History Of ◽  
Neonatal Thyroid Screening ◽  
Screening Result

The screening of newborn babies for congenital hypothyroidism has changed the natural history of this abnormality. We describe here a case of a female patient with congenital hypothyroidism that was missed by primary neonatal thyroid screening (using thyroid-stimulating hormone) at two days of age; it was detected only after the development and persistence of jaundice during the first three weeks of life. A normal neonatal screening result does not preclude the development of hypothyroidism later in infancy. Clinical vigilance must be maintained by practitioners. A second screening between two and six weeks of age may be useful in order to detect the few cases missed at first screening.

scholarly journals Neonatal thyroid screening a tertiary care experience at VSS Medical College and Hospital, Burla

2021 ◽  
Vol 8 (2) ◽  
pp. 280
Author(s):  
Vidhyadhara Naik T. L. ◽  
Bineet Panigrahi ◽  
Sanjukta Panda
Keyword(s):  
Mental Retardation ◽  
Congenital Hypothyroidism ◽  
Tertiary Care ◽  
Recall Rate ◽  
Confirmatory Test ◽  
Neonatal Hypothyroidism ◽  
Care Experience ◽  
Thyroid Screening ◽  
Neonatal Thyroid Screening ◽  
Serum Tsh

Background: Congenital hypothyroidism is one of the most common preventable etiologies of mental retardation. The worldwide incidence of CH ranges from 1 in 3000 to 1 in 4000 live newborn. Objective of the study was to know the incidence of congenital hypothyroidism in this part of the country, which is necessary to understand the burden of congenital hypothyroidism to the society.Methods: Primary serum TSH measurement in screening neonates with backup thyroxine (T4) determination in infants with high TSH levels (>20 mIU/l). TSH and FT4 were estimated by chemi luminescence immunoassay (CLIA) method using reagent monobind, INC.Results: Serum TSH of screened neonates ranged between 0.16 mIU/l and 80.32 mIU/l, Mean±SD of sTSH being 5.80±3.96 mIU/l. Out of 2212 screened newborns, 9 newborns had sTSH value >20 mIU/l, who were recalled for confirmatory test, giving a recall rate of 0.4%. Out of 9 recalled newborns, 3 had persistently elevated sTSH >20 mIU/l making incidence of congenital hypothyroidism of 1:737 in our study.Conclusions: We found a higher incidence of 1:737 neonatal hypothyroidism in this region as compared to estimated national incidence. CH being preventable cause of mental retardation and other harmful effects on a growing newborn, neonatal screening programme for congenital hypothyroidism is highly recommended.

scholarly journals Recombinant Thyrotropin in the Diagnosis of Congenital Hypothyroidism

2007 ◽  
Vol 92 (4) ◽  
pp. 1434-1437 ◽  
Author(s):  
Dov Tiosano ◽  
Lea Even ◽  
Zila Shen Orr ◽  
Ze’ev Hochberg
Keyword(s):  
Congenital Hypothyroidism ◽  
Screening Program ◽  
Thyroid Tissue ◽  
Area Under The Curve ◽  
Definitive Diagnosis ◽  
Free T4 ◽  
Modern Approach ◽  
Safety Issues ◽  
Replacement Treatment ◽  
Underlying Mechanisms

Abstract Context: A modern approach to congenital hypothyroidism requires a definitive diagnosis of the underlying mechanisms; this can be achieved within the first weeks of life. When uncertainty persists, treatment is commenced, and the definitive diagnosis of congenital hypothyroidism is deferred to the age of 3 yr. Objectives: The interruption of thyroid replacement treatment is perceived as risky by parents and physicians. The aim of this pilot study was to test the possibility of a definitive diagnosis during thyroid replacement treatment, using stimulation of thyroid tissue by recombinant human (rh)TSH. Subjects: Eight patients, three boys and five girls, age 5–15 yr (mean, 9.5 ± 3.7 yr), with congenital hypothyroidism that had been diagnosed by the neonatal screening program, and having their diagnosis verified between the ages of 3–4 yr, were reevaluated while on thyroid replacement therapy. Interventions: Patients received im 0.6 mg/m2 rhTSH on two consecutive days. Results: rhTSH pharmacokinetics, maximal concentration, t1/2, and area under the curve in children were different as compared with adults. In the patients with intact TSH receptors, free T4 levels decreased after the first and the second injection of rhTSH (P = 0.0137 and P = 0.0149, respectively). All eight children showed identical scintigraphy after rhTSH administration as compared with thyroid replacement withdrawal. Conclusions: The use of rhTSH is effective for definitive diagnosis of congenital hypothyroidism during thyroid replacement treatment, and no safety issues were encountered.

scholarly journals Increased risk of preeclampsia after use of paracetamol during pregnancy – causal or coincidence?

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hetti von Hellens ◽  
Leea Keski-Nisula ◽  
Heidi Sahlman
Keyword(s):  
Third Trimester ◽  
Retrospective Case ◽  
Reverse Causation ◽  
Gestational Period ◽  
The Third ◽  
Precise Data ◽  
Increased Risk ◽  
Study Population ◽  
The Difference ◽  
Risk Of Preeclampsia

Abstract Background The maternal use of paracetamol during pregnancy has been associated with the development of preeclampsia. This study aims to clarify whether the connection is causal or whether it is due to reverse causation. Methods This study is a continuation of the retrospective case cohort study examining 2,508 pregnant women using a variety of drugs and the development of preeclampsia (1,252 women with preeclampsia and 1,256 controls). For the purposes of this study, more precise data was collected from several hospital databases of the women among this cohort who had reported taking paracetamol during pregnancy (indications, gestational period etc.); this was evaluated in association with the development of preeclampsia. Results 5.5% (100 cases and 37 controls) of all the study population (2,508) had clearly reported paracetamol use. Women with preeclampsia had used significantly more often paracetamol during pregnancy compared to controls (cases 8.0%, controls 2.9%, p < 0.001). The difference was most evident in the third trimester (after the 29th GW) and the use of paracetamol was associated with both mild and severe preeclampsia. Headache and “general pain” were the most common indications for medication among all paracetamol users. Conclusions The use of paracetamol in the third trimester of pregnancy was associated with preeclampsia. This observation indicates that association between paracetamol use and preeclampsia is probably due to reverse causation, i.e. women with preeclampsia experience more headaches due to preeclampsia symptoms since this association was not detected with the use of paracetamol in earlier stages of pregnancy.

Pubertal development and adult height in patients with congenital hypothyroidism detected by neonatal screening in southern Brazil

2020 ◽  
Vol 33 (11) ◽  
pp. 1449-1455
Author(s):  
Suzana Nesi-França ◽  
Rodrigo B. Silveira ◽  
Juliana Cristina R. Rojas Ramos ◽  
Adriane A. Cardoso-Demartini ◽  
Monica N. Lima Cat ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Adult Height ◽  
Screening Program ◽  
Pubertal Development ◽  
Z Score ◽  
Normal Range ◽  
Adequate Treatment ◽  
Increased Risk ◽  
Puberty Onset

AbstractObjectivesAdequate treatment of congenital hypothyroidism (CH) is required for normal growth and sexual development. To evaluate pubertal development in patients with permanent CH detected by a statewide Neonatal Screening Program of Paraná and, secondly, to evaluate adult height (AH) in a subgroup of patients.MethodsClinical, laboratory, and auxological data obtained from medical records of 174 patients (123 girls).ResultsMedian chronological age (CA) at treatment initiation was 24 days, and mean initial levothyroxine dose was 11.7 ± 1.9 μg/kg/day; mean CA at puberty onset was 11.5 ± 1.3 years (boys) and 9.7 ± 1.2 years (girls); mean CA in girls who underwent menarche (n=81) was 12.1 ± 1.1 years. Thyroid-stimulating hormone (TSH) values above the normal range were observed in 36.4% of the boys and 32.7% of the girls on puberty onset, and in 44.6% around menarche. Among 15 boys and 66 girls who had reached the AH, the median height z-score value was significantly greater than the target height (TH) z-score value in boys (p=0.01) and in girls (p<0.001). Boys with normal TSH values at puberty onset had greater mean AH z-score compared with boys with TSH values above the normal range (p=0.04).ConclusionsIn this group, pubertal development in girls with CH was not different from that reported in healthy girls in the general Brazilian population. Boys with higher TSH at puberty onset may have an increased risk of not reaching their potential height compared with those with normal TSH during this period. In a subgroup who attained AH, the median AH z-score was greater than the median TH z-score.

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