Neonatal Congenital Hypothyroidism Research Articles

Neonatal screening for congenital hypothyroidism in Sweden 1980-2013: effects of lowering the thyroid-stimulating hormone threshold.

This study aims to evaluate the neonatal screening for congenital hypothyroidism (CH) and the diagnosis CH in the national health registers and to study the effects of lowering screening thyroid-stimulating hormone (TSH) threshold on the incidence of CH and birth characteristics of screening positive and negative CH children. This is a nationwide register-study of all children (n = 3 427 240) in the Swedish Medical Birth Register (MBR) and national cohort for screening positive infants (n = 1577) in 1980-2013. The study population was further linked to several other Swedish health registers. Evaluation of the CH screening and CH diagnosis was performed with levothyroxine use in the first year of life as reference. The incidence of CH was estimated by the Clopper-Pearson method. Regression models were used to study associations between CH and birth characteristics. The neonatal CH screening had high efficacy, but 50% of all children with a CH diagnosis were screening negative. The incidence of screening positive CH increased (1/3375 to 1/2222), and the incidence of screening negative CH decreased (1/2563 to 1/7841) after lowering the TSH screening threshold in 2009. Screening negative CH was associated with female sex, twinning, prematurity, low birth weight, birth defects, and need of neonatal intensive care, and 42% had transient disease. Despite high efficacy of the CH screening, 50% of children diagnosed as CH was screening negative. Although other factors influencing the incidence of the CH diagnosis cannot be ruled out, the incidence of screening negative CH decreased with lowering of the TSH threshold. Birth characteristics differed between screening positive and negative CH.

Family history of thyroid disease and risk of congenital hypothyroidism in neonates with Down síndrome.

Family history of thyroid disease (FHTD) constitutes a possible risk factor for congenital hypothyroidism (CH) in the general population; however, FHTD possible relationship with CH in subjects with Down syndrome (DS) has not yet been explored. To determine whether FHTD is associated with an increased incidence of CH in neonates with DS. Hospital-based case-control study in 220 neonates with DS. Thyroid function tests of 37 infants with DS and positive FHTD (cases) were compared with those of 183 newborns with DS without FHTD (control group). Data were analyzed using multivariate logistic regression analysis and adjusted odds ratios (aORs) with their respective 95 % confidence intervals (CI) were calculated. Nine newborns with DS in our sample had CH (4.1 %). In the multivariate analysis, FHTD showed an association with CH in neonates with DS (aOR = 8.3, 95 % CI: 2.0-34.3), particularly in males (aOR = 9.0, 95 % CI: 1.6-49.6). In contrast, newborns with DS without FHTD were less likely to suffer from CH (aOR = 0.4, 95 % CI: 0.1-0.8). Newborns with DS and FHTD have an eight-fold higher risk for CH, particularly when the index case is male. FHTD detailed evaluation can be an easy and accessible strategy to identify those newborns with DS at higher risk for CH.

Maternal hypothyroidism to congenital hypothyroidism in neonates and neonatal outcomes

Introduction: Hypothyroidism is widely prevalent in pregnant women and the rate of detection, especially on a developing country like India, has not kept pace with the magnitude of the problem (1).Since hypothyroidism is easily treated, timely detection and treatment of the disorder could reduce the burden of adverse fetal and maternal outcomes, which are very commonly encountered (1).Congenital hypothyroidism can be caused due to thyroid dysgenesis, disorders of thyroid hormone synthesis, iodine deficiency or excess as well as trans-placental transfer of maternal antibodies or medications. (1). Congenital hypothyroidism is a preventable cause of intellectual disability. Hence it is important to monitor neonates born to mothers with hypothyroidismHypothyroidism is widely prevalent in pregnant women and the rate of detection, especially in a developing country like India needs to be treated and detected early (3).Aims and Objectives: To detect and prevent congenital hypothyroidism in neonates born to mothers with hypothyroidism and their neonatal outcomes. To screen the neonates for congenital hypothyroidism.Methods: All the pregnant women visiting the antenatal OPD at KIMS Narketpally were screened for hypothyroidism during the first antenatal visit.The present study was conducted on 27 women with the diagnosis of hypothyroidism in pregnancy who came to the antenatal OPD and who were delivered at KIMS Narketpally.The neonates born to these mothers were screened for hypothyroidism on day 5 of life in order to detect congenital hypothyroidism in the neonate.Results: In the present study all the 27 mothers diagnosed with Hypothyroidism in pregnancy were taken. The TSH value of most of the mothers with Hypothyroidism was between 3 to 4.9 and most of the mothers were controlled on treatment with Tab.Thyronorm 25mcg.The neonates born to these mothers were screened on Day 5 of life to detect congenital Hypothyroidism. In the present study it showed that none of the neonates born to these Hypothyroid mothers had congenital hypothyroidism because of early diagnosis and Treatment of the mothers in the antenatal period.Conclusion: In the present study it was observed that all the neonates born to the mothers with Hypothyroidism had normal TSH values and none of the neonates had congenital hypothyroidism dues to early diagnosis and treatment.

Analysis of Risk Factors and Screening Results of Neonatal Congenital Hypothyroidism in a Tertiary Care Center of Southern China.

To explore the risk factors for neonatal congenital hypothyroidism (CH) and the influencing factors of false-positive results in CH screening. In this study, 255 neonatal patients with CH who completed the screening and further diagnosis and 366 neonates with positive CH screening results and normal thyroid function were selected as the case group. 246 healthy neonates with normal thyroid function were selected as the control group. Gestational age, birth-weight, maternal age, small for gestational age (SGA), perinatal factors (gestational thyroid dysfunction, gestational diabetes mellitus, etc.) were used as influencing factors, using χ 2 tests were performed for comparison. The statistically significant variables were analyzed with Logistic multiple regression models, and the difference was considered statistically significant (P<0.05). There were statistical differences in the SGA, maternal gestational diabetes mellitus, thyroid disease, and the proportion using assisted reproduction technology among the case group, false-positive screening group, and control group (χ 2 was 11.943, 6.857, 6.999, 9.732, respectively, P < 0.05). The results of multivariate logistic regression analysis showed that the gestational thyroid disease (OR = 8.452, 95% CI:1.051-67.982), gestational diabetes mellitus (OR = 2.654, 95% CI:1.051-6.706), and assisted reproduction (OR = 0.194, 95% CI:0.041-0.911) were the influencing factors for neonatal CH, and the difference was statistically significant (P < 0.05). The SGA (OR = 2.556, 95% CI:1.027-6.361), gestational thyroid disease (OR = 7.801, 95% CI:1.03-59.057), gestational diabetes mellitus (OR = 2.731, 95% CI:1.18-6.322), and assisted reproduction (OR = 0.28, 95% CI:0.102-0.765) were the influencing factors of the false-positive screening results of neonatal CH. The difference was statistically significant (P < 0.05). Neonatal CH and positive screening results are influenced by assisted reproduction, gestational thyroid dysfunction, gestational diabetes mellitus, and SGA.

Thyroid Function in 509 Premature Newborns Below 31 Weeks of Gestational Age: Evaluation and Follow-up

Preterm and low birth weight (LBW) neonates may present with thyroid dysfunction during a critical period for neurodevelopment. These alterations can be missed on routine congenital hypothyroidism (CH) screening which only measures thyroid stimulating hormone (TSH). The objective of this study was to evaluate a protocol for thyroid function screening (TFS) six years after national implementation. Serum TSH and free thyroxine (fT4) were measured during the second week of life in neonates below 31 weeks. Patients with abnormal TFS (fT4 <0.8 ng/dL and/or TSH >5 mU/L) were followed up with repeated tests until normal levels were reported. Patients who were still on levothyroxine (LT4) at three years of age were re-evaluated. Five-hundred and nine neonates were included. Thyroid dysfunction was detected in 170 neonates (33%); CH n=20 (3.9%) including typical CH n=1; delayed TSH elevation CH n=19; hypothyroxinemia of prematurity (HOP) n=15 (2.9%); and transient hyperthyrotropinemia n=135 (26.5%). Twenty-one neonates (4.1%) were treated (20 for CH and 1 for HOP). At 3-year follow-up only three patients were diagnosed with permanent CH and still need treatment. LBW infants tended to have TSH levels higher than those with adequate weight. This protocol was able to detect thyroid dysfunction in preterm neonates who were not identified by the current program based on TSH determination in whole-blood. This thyroid dysfunction seems to resolve spontaneously in a few months in the great majority of neonates, but in some cases LT4 could be needed. There is a critical need for specific guidelines regarding the follow-up and re-evaluation of transient CH in preterm neonates.

The incidence of congenital hypothyroidism in neonates born in Chaharmahal and Bakhtiari province from 2015 to 2021; A cross-sectional study

Introduction: Congenital hypothyroidism (CH) is one of the most common endocrine and metabolic disorders and a common preventable cause of mental retardation across the world. This disorder can be prevented if diagnosed and treated before the age of four weeks. Objectives: This study was performed to investigate the incidence rate of CH in infants in Chaharmahal and Bakhtiari province. Patients and Methods: The data of this study were obtained by the CH screening program from 2015 to 2021 in the health deputy of Chaharmahal and Bakhtiari province. Results: A total of 651 patients were diagnosed with CH, which showed an incidence rate of 5.06 per 1000 births (1 per 198 live births) in the province. The highest incidence of the disease was obtained in 2016 and the lowest incidence in 2021. Lordegan city had the highest incidence rate (8.1 per 1000 live births) and Kiar had the lowest one (1.67 per 1000 live births) during the study period. Moreover, the highest and lowest incidence rates in terms of season were observed in winter and summer, respectively. Conclusion: It can be concluded that Chaharmahal and Bakhtiari province, especially Lordegan, is one of the regions with high prevalence of CH in Iran, therefore the incidence rate is not only higher than the national average but also higher than the global average. Hence, the potential causes of this observation deserve further investigation.

Serological Characteristics, Etiological Analysis, and Treatment Prognosis of Children with Congenital Hypothyroidism.

Objective The aim of the study is to analyze the serological features, etiology, and prognosis of congenital hypothyroidism (CH) treated with L-thyroxine sodium (L-T4). Methods A total of 126 CH children in our hospital from June 2015 to January 2020 were selected as the research objects, and L-T4 treatment was given immediately after diagnosis. After diagnosis and 24 months of treatment, laboratory serum thyroid function-related indicators were examined, and thyroid changes were determined by ultrasound. We compared serum thyroxine levels in children with different thyroid changes, compared serum thyroid hormone levels, serum ghrelin levels, and body mass index (BMI) changes in children with CH before treatment and after 24 months of treatment, and analyzed the prognosis of treatment in children. In terms of thyroid changes in 126 CH children, 32 cases (25.40%) had a normal thyroid gland, 16 cases (12.70%) had a hypoplastic thyroid gland, 40 cases (31.75%) had an ectopic thyroid gland, 28 cases (22.22%) had an absent thyroid gland, and 10 cases (7.93%) had an enlarged thyroid gland, with an ectopic thyroid gland being the most common. In terms of serological expression of CH children, the TSH level in children with thyroid dysplasia was significantly higher than that in children with basic normal and T3 and T4 levels were significantly lower than those in children with basic normal (P < 0.05). At the same time, the TSH level in children with thyroid absence, ectopic, and enlargement was increased, while thyroxine (T4) and tri-iodothyronine (T3) levels were decreased compared with those in children with thyroid dysplasia. The difference was statistically significant (P < 0.05). Univariate analysis showed that there were statistically significant differences in birth weight, week of gestation at delivery, maternal age at childbirth, household registration, and a family history of thyroid disease compared between the two groups (P < 0.05); multivariate logistic regression analysis showed that birth weight <2,500 g, maternal age >35 years, rural residence, and a family history of thyroid disease were risk factors for neonatal CH (P < 0.05). Serum thyroid-stimulating hormone (TSH) levels, serum ghrelin levels, and the body mass index of children with CH decreased significantly, and T4 levels increased significantly after 24 months of treatment (P < 0.05). Conclusion Screening for common causes of CH is conducive to timely detection of children with CH, and L-T4 treatment can effectively improve thyroid function in children.

Adult and neonate TSH blood spot reference intervals.

Background: Neonatal congenital hypothyroidism screening is performed by measuring thyroid-stimulating hormone (TSH) in a dried blood spot (DBS) sample, whereas acquired hypothyroidism uses serum TSH. There is no established DBS TSH reference interval, but knowing this is useful, as some patients cannot tolerate venepuncture, so DBS collection is seen as an acceptable alternative. The aim of this study was to establish DBS TSH reference intervals in adults and neonates (day 5-8), and determine the relationship between serum and DBS TSH.Methods: Euthyroid adults, not on thyroid medication and with a normal haematocrit, were selected. If they had a paired lithium heparin sample, DBS were prepared by spotting 50µL of whole blood onto filter paper. Dried blood spot TSH was measured using the PerkinElmer Neonatal hTSH kit on the GSP instrument and serum using the Abbott Architect assay. The relationship between DBS and serum TSH was analysed using Passing-Bablok regression and the adult DBS TSH reference interval calculated using transformed data. The neonatal reference interval was calculated from screening results using the non-parametric method.Results: Overall, 109 adult samples were included in the study (61 female). The Passing-Bablok regression was: DBS TSH = 0.68 × serum TSH + 0.07, and reference interval was 0.49-3.07 mU/L. The neonatal DBS reference interval was 0.40-4.10 mU/L from 8351 results.Conclusion: This study derived adult and neonate TSH DBS reference intervals using the GSP analyser and established the relationship between serum and DBS TSH. Knowing this information will allow for improved interpretation of DBS TSH results.

Prevalence of Congenital Hypothyroidism in Neonates

Objective: To determine the frequency of congenital hypothyroidism in neonates. Patients and Methods: A total number of 200 neonates born through SVD and cesarean section after 37 weeks of gestation aged 48 hours of birth to 2 weeks of neonatal age (as serum of neonates less than 48 hours of life contain mother’s serum level of TSH were included. The study was conducted from 05-Nov-2020 to 04-May-2021. Data regarding neonates’ age, gender, weight, and height was taken. 2cc venous blood was taken for serum TSH and T4 level. Neonates having TSH hormone level more than 20mIU/mL were labelled as having congenital hypothyroidism (CH). Results: Mean age of neonates was 9.63±3.94 days. There were 113 (56.50%) females and 87 (43.50%) male neonates. Mean weight of neonates was 2970.28±516.32 grams. Mean height of neonates was 52.23±2.11 cm. Mean gestational age was weeks. Mean occipitofrontal circumference of neonates was 34.69±1.29 cm. Mean TSH level were 6.64±7.92 mIU/L. Mean T4 level was 23.70±4.25 µg/dL. CH was diagnosed in 4 (2.0%) neonates. Conclusion: Congenital hypothyroidism (CH) is common among neonates. In present study CH was diagnosed in 2.0% neonates who were screened for CH. So CH screening should be done in all neonates to diagnose CH at early stages and to prevent complication of CH in these neonates. Keywords: Thyroid Stimulating Hormone (TSH), Congenital Hypothyroidism (CH),

An interpretation of "congenital hypothyroidism: a 2020-2021 consensus guidelines update-an ENDO-European Reference Network initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology".

Congenital hypothyroidism is one of the common diseases causing delayed intelligence development and growth retardation in children. In 2021, the ENDO-European Reference Network updated the practice guidelines for the diagnosis and management of congenital hypothyroidism. The guidelines give a comprehensive and detailed description of the screening, diagnosis, and management of congenital hypothyroidism in neonates. This article gives an interpretation of the guidelines in order to provide a reference for clinicians in China.

Incidence of Congenital Hypothyroidism in Neonates: A study in Abbotabad

Aim: To determine the frequency of congenital hypothyroidism in neonates admitted in Neonatology Department of Ayub Teaching Hospital, Abbotabad Setting: Department of Neonatology, ATH, Abbotabad Duration of Study: From 13 June, 2016 to 13 Dec, 2016. Design of study: Cross sectional Methodology: 621 neonates included in this study. All admissions were enrolled in study. Informed written consent was taken from parents. TSH level of the patients was sent to laboratory. Name, age, gender and address was recorded on a Performa. Results: As per frequencies and percentages for congenital hypothyroidism, 5(0.8%) neonates were found having congenital hypothyroidism. Conclusion: Prevalence of congenital hypothyroidism in neonates is 0.8%. It is strongly associated with hypothyroid mothers and their intake of medicine in pregnancy. Keywords: Hypothyroid mother, Newborn baby, TSH

Historia familiar de enfermedad tiroidea y riesgo de hipotiroidismo congénito en neonatos con síndrome de Down

Introduction: Family history of thyroid disease (FHTD) as risk factor for congenital hypothyroidism (CH) in patients with Down syndrome (DS) has not yet been explored. Objective: To determine whether FHTD is associated with an increased risk for CH in DS. Method: Case-control study in 220 neonates with DS. Thyroid function tests of 37 infants with DS and FHTD (cases) were compared with those of 183 DS newborns without FHTD (reference group). Data were analyzed using multivariate logistic regression analysis and adjusted odds ratios (aORs) with their respective 95 % confidence intervals (CI) were calculated. Results: Nine newborns with DS in our sample had CH (4.1 %). FHTD showed an association with CH in neonates with DS (aOR = 8.3, 95 % CI: 2.0-34.3), particularly in males (aOR = 9.0, 95 % CI: 1.6-49.6). In contrast, newborns with DS without FHTD were less likely to suffer from CH (aOR = 0.4, 95 % CI: 0.1-0.8). Conclusions: FHTD detailed evaluation can be an easy and accessible strategy to identify those newborns with DS at higher risk for CH.

Development of a risk prediction model for early discrimination between permanent and transient congenital hypothyroidism.

To develop a risk prediction model for early discrimination between transient and permanent congenital hypothyroidism (CH). In a retrospective cohort, 1047 confirmed CH neonates, from 15 randomly selected provinces in Iran, were entered to the study. Clinical and biochemical information of transient and permanent cases, distinct at the age of 3 years were retrospectively gathered. Among CH neonates, the overall prevalence of permanent CH was 57.1%. Using forward stepwise multivariable logistic regression analysis, confirmatory venous TSH, total T4 < 8.2 ng/dl, requiring levothyroxine dosage increase, venous TSH ≥ 10 mU/l between 6 and 12 months of age, parental consanguinity and family history of thyroid diseases were associated with increased risk of permanent CH. The prediction model achieved a very good power in discriminating patients with transient and permanent CH with an optimism-corrected area under the ROC curve of 0.86 (95% CI:0.84-0.88) with a very good calibration. Integrated discrimination improvement (IDI) test indicated significantly greater diagnostic performance of the model compared to serum TSH alone. Using several potential predictors for permanent CH, we developed a relatively powerful risk prediction model as a cost-saving screening tool in order to avoid unnecessary long-term treatment of transient cases which might empower clinicians for prognostication of the CH course and tailoring treatment up to 1 year of age.

Family History of Thyroid Disease and Risk of Congenital Hypothyroidism in Neonates with Down Syndrome in Iraq

Introduction: Family history of thyroid disease (FHTD) as risk factor for congenital hypothyroidism (CH) in patients with Down syndrome (DS) has not yet been explored. Objective: To determine whether FHTD is associated with an increased risk for CH in DS. Method: 220 newborns with DS were studied in a case-control study. Thyroid function tests were compared between 37 neonates with DS with FHTD (cases) and 183 DS newborns without FHTD (reference group). Multivariate logistic regression analysis was used to examine the data, and adjusted odds ratios (aORs) with respective 95 percent confidence intervals (CIs) were produced. Results: Nine newborns with DS in our sample had CH (4.1%). FHTD showed an association with CH in neonates with DS (aOR = 8.3, 95% CI: 2.0-34.3), particularly in males (aOR = 9.0, 95% CI: 1.6-49.6). In contrast, newborns with DS without FHTD were less likely to suffer from CH (aOR = 0.4, 95% CI: 0.1-0.8). Conclusions: FHTD thorough evaluation can be a simple and accessible technique for identifying newborns with DS who are more likely to develop CH. Funding Information: The authors were not sponsored to carry out this article. Declaration of Interests: The authors declare that they have no conflict of interest. Ethics Approval Statement: The study was approved by the Ethics Committee in – Baghdad- Iraq. The authors have obtained the informed consent of the patients and / or subjects referred to in the article.

Comparison of hematological parameters in congenital hypothyroidism in neonates: A case controls study

Thyroid hormones play an important role in human metabolism. Red blood cells abnormalities are mostly associated with thyroid hormones. However, they are very rarely investigated and associated to the permanent and transient congenital hypothyroidism in Tamil Nadu’s Government Territory care centre in Chennai. In this study, an attempt was made to study the haematological status in permanent and transient hypothyroidism neonates at birth.This retrospective study included 135 subjects, among which were permanent hypothyroidism (n=9), transient hypothyroidism (n=18), and euthyroid neonates (108). This study was carried out at department of biochemistry, Regenix super speciality laboratories and sample collection were done at Government Institute of Child’s health and hospital for children and Government institute of obstetrics and Gynaecology and hospital for Women under Madras Medical college, Chennai. The haematological parameters and thyroid profile of the subjects were assessed by sysmex heamatology analyser, Roche Cobas e411 ECLIA and Neonatal screening by BIORAD QUANTASE ELISA. Mean and standard deviation, analysis of variance (two way anova) with p&amp;#60;0.05 considered as statistically significant.In this study group, we compared the homological status in these groups, permanent, transient, and euthyroid as controls neonates. We found that haematological status like Hb, RBC, MCV, and RDW were significantly increased at birth in both permanent and transient hypothyroidism were compared with euthyroid neonates, results are significant. The results reported in these are Mean ± S.D., were statistically tested by ANOVA. In permanent Congenital Hypothyroidism (CH), MCV (79.97-87.58 fl) and RDW (13.98-16.6%), whereas in Transient Congenital Hypothyroidism, MCV (72.52-87.05 fl) and RDW (13.41-15.68%), and controls MCV (78.69-82.12 fl) and RDW (12.4 – 14.3%), suggesting that these patients were at risk of anemia and other RBS abnormalities. Mean corpuscular volume is an important to view the change in RBCs destruction, production, loss and morphology.The thyroid dyshormonogenesis is frequently associated with mothers’ complications like anemia, hypo/hyperthyroid mother, siblings developmental delay, and goitre. Permanent CH is associated with serious complication with erythrocyte abnormalities. The risk of congenital hypothyroidism cloud be getting into developmental delay and mentally retarded children, Such conditions should be detect early and corrected.

SCREENING FOR CONGENITAL HYPOTHYROIDISM WITH UMBILCAL CORD BLOOD TSH LEVEL ‘AN EXPERIENCE FROM A TERTIARY CARE CENTER'

BACKGROUND:- Congenital hypothyroidism (CH) is the most common preventable cause of mental retardation. Screening for congenital hypothyroidism can be helpful in preventing mental retardation among general population. Umbilical cord blood TSH (CBTSH) estimation has been universally accepted and is one of the most cost effective screening programs in the field of preventive medicine and public health. AIMS AND OBJECTIVES:- This study was aimed to find the effectiveness of cord blood TSH as a screening tool for congenital hypothyroidism. MATERIALS AND METHODS:- This hospital based cross sectional study was conducted at GCS Medical College Hospital &amp; Research Centre, Ahmedabad, over a period of one year in 1687 neonates. All newborns delivered at the institute were subjected to cord blood TSH level estimation and a repeat Serum TSH estimation was done at or after 72 hours of life. Diagnosis of congenital hypothyroidism is confirmed postnatally by standard Serum TSH value cut offs as per age. Data collected and statistically analysed. RESULTS:- Out of 1687 neonates born during the study period, 1548 formed the study group. 805 (52%) were males and 743(48%) were females. The birth weight of babies ranged from 850 gms to 4300 gms. The value of CBTSH varied from 1.3mIU/L to 101.4mIU/L with mean CBTSH of 7.21mIU/L. 28(1.8%) babies had CBTSH levels &gt;20mIU/L. Out of which four were later diagnosed to have congenital hypothyroidism. All four had CBTSH levels &gt;20mIU/L. All other neonates with CBTSH levels less than 20mIU/L were found to have normal screening later postnatally. CONCLUSION:- The current study concludes that cord blood TSH is a sensitive marker to screen for congenital hypothyroidism in neonates. A cut off value of cord blood TSH &gt;20mIU/ml can be used for screening purpose.

Newborn Screening for Congenital Hypothyroidism: the Benefit of Using Differential TSH Cutoffs in a 2-Screen Program.

Analysis of a 2-screen program for congenital hypothyroidism (CH) was performed using differential dried-blood spot thyrotropin (bTSH) cutoffs of 10 mU/L at first screening (all infants) and 5 mU/L at second screening (selected infants). This work aimed to characterize CH infants identified by the second screening and compare infants with bTSH of 5.0 to 9.9 and 10 mU/L or greater on second screening. Maternal and neonatal clinical features were retrospectively analyzed for 119 CH babies detected on the second screen in the Lombardy region of Italy, 2007 to 2014. Fifty-two (43.7%) of the 119 CH neonates showed bTSH values ranging from 5.0 to 9.9 mU/L at the second screening (low bTSH group) and 67 (56.3%) bTSH of 10.0 mU/L or greater (high bTSH group). The frequency of thyroid dysgenesis and eutopic gland was similar in both groups, as was the frequency of permanent and transient CH. Moreover, a high frequency of extrathyroidal malformations was found in both groups. The percentage of preterm infants (57.7% vs 23.9%, P < .001) and infants admitted to the neonatal intensive care unit (50.0% vs 17.9%, P < .001) was significantly higher in the low vs the high bTSH group. In addition, maternal treatment with glucocorticoids in pregnancy was significantly more frequent in the low bTSH group than in the high bTSH group (11.5% vs 1.5%, P = .042), as well as maternal hypothyroidism and/or goiter (26.9% vs 10.4%, P = .036). This study has demonstrated that a lower TSH cutoff at the second screening can detect additional cases of CH and that a second bTSH cutoff of 5.0 mU/L is appropriate for identifying preterm newborns and babies with associated risk factors.

Assessment of intelligence quotient score in children at the age of six with suspected congenital hypothyroidism: A retrospective cohort study.

Background: The clinical suspicion of Congenital Hypothyroidism (CH) is identified by abnormal results in the first test of Thyroid Stimulating Hormone (TSH) (5-9.9 mIU/L), and normal results in re-test (TSH<4 mIU/L). The CH has a contribution to physical and mental health. This study aimed to determine the Intelligence Quotient (IQ) score in children with suspected congenital hypothyroidism. Methods: This research is a retrospective cohort study conducted in Mashhad, Iran. The IQ scores of 1976 children at the age of 6 were considered as an outcome variable. The history of CH screening for each newborn was assessed, then all suspected CH newborns that diagnosed healthy in re-test were considered as an exposed group, the effects of this situation on IQ score was assessed using logistic regression. All analysis was performed in STATA. Results: The averages of IQ score (p<0.001), weight (p=0.024), and height (p<0.001) in the exposed group were lower than the unexposed group. The exposed group was related to those whose parental education was less or equal to 12 years (p<0.001). Similarly, the history of CH and maternal education for ≤12 years were detected as risk factors for having an IQ score of <90 in children. Conclusion: Aside from the link between parental education and clinical suspicion of CH in neonates, our findings underline the possible strong effect of CH status and maternal education for ≤12 years on reducing IQ scores in the next years of child life.

Perinatal risk factors for congenital hypothyroidism: A retrospective cohort study performed at a tertiary hospital in China.

Congenital hypothyroidism (CH) is one of the most common neonatal endocrine diseases. This retrospective cohort study aimed to identify the potential perinatal risk factors for CH and to differentiate between transient and permanent CH (TCH and PCH, respectively) as well as determine their prevalence in a southeastern Chinese population.This study was based on an 18-year surveillance of a neonatal CH screening program in a large tertiary hospital. A retrospective review of the maternal and neonatal perinatal exposures was conducted.Of the 205,834 newborns screened between 2000 and 2018, 189 were diagnosed with CH (1/1089). Among the 131 CH patients who again underwent thyroid function testing (TFT) after discontinuation of levothyroxine at the age of 3 years, 61 (46.6%) were diagnosed with PCH and 70 (53.4%) were diagnosed with TCH. In the maternal characteristics model, women aged 35 years or older and those who had thyroid disease and/or diabetes mellitus during pregnancy had increased risk of having an offspring with CH (P = .001, .000, and .001, respectively). Significant associations were found with regard to parity and the risk of CH in the offspring (P = .000). In the neonatal characteristics model, infants with female sex, preterm birth, post-term birth, low birth weight, other birth defects, and those born as part of multiple births (P = .011, .034, .001, .000, .000, and .003, respectively) had increased risk of CH. The rate of newborns with other birth defects was higher in the PCH group than that in the TCH group (P = .008), whereas the rate of maternal thyroid disease, newborns with low birth weight, and newborns with preterm birth was higher in the TCH group than that in the PCH group (P = .041, .020, and .013, respectively). The levothyroxine dose (μg/kg/day) at 1 year, 2 years, and 3 years old was significantly lower in the TCH group than that in the PCH group (P = .000, .000, and .000, respectively).Perinatal factors should be considered during the diagnosis and treatment of CH.

Congenital hypothyroidism screening by umbilical cord blood: thyroid stimulating hormone

Background: Congenital hypothyroidism (CH) is one of the common preventable cause of intellectual disability. Most cases of CH result from thyroid dysgenesis. CH is often asymptomatic in early infancy, and any delay in treatment can affect the child in terms of delayed cognitive milestones. NSCH (newborn screening for congenital hypothyroidism) has been universally accepted and it is one of the most cost effective screening programs in the field of preventive medicine and public health.Methods: A cross sectional study was conducted in Sri Venkata Sai Medical College and Hospital from 28th August to 28th February 2019 (1.5 years), this study was done on 73 newborns (70 deliveries, three mothers gave birth to twins). All data was collected prospectively. Mothers with known thyroid disease or on thyroid medication were excluded from the study. Under sterile aseptic conditions blood sample is collected from the umbilical cord soon after delivery.Results: In the present study Cord blood TSH level of &gt;20 mIU/L was present in 10% (7) of neonates. When the blood TSH levels were repeated (on day 3) among those with high cord blood TSH levels (&gt;20), the blood TSH levels was also high (&gt;20) in 6 (85.7%) neonates and low (&lt;20) in 1 (14.2%). In Neonates with cord blood TSH &gt;20, 6 neonates also had Low T4 (T4&lt;7) levels (85.7%) and 1 neonate (14.2%) had T4 &gt;7. In the present study 6 neonates (85.7%) had Congenital Hypothyroidism. The present study finds that Cord blood TSH as a diagnostic tool has Sensitivity of 100% and specificity of 98.5% in diagnosing congenital hypothyroidism.Conclusions: The current study concludes that Cord blood TSH is a sensitive and specific marker to predict the presence of congenital hypothyroidism in neonates.