Incidence Of Congenital Hypothyroidism Research Articles

Congenital hypothyroidism in preterm infants: a 3- to 8-year longitudinal study in southern Thailand.

Background Preterm infants are at high risk of developing congenital hypothyroidism (CH) due to the immaturity of the hypothalamic-pituitary-thyroid (HPT) axis, loss of iodine supply from the mother and preterm health problems. Objectives To study the incidence and etiologies of CH in preterm infants who were born or admitted in our institute during 2010-2015. Methods The medical records of preterm infants diagnosed with CH as defined by the thyroid-stimulating hormone (TSH) level at the time of the first or second screening >10 mU/L and/or free T4 < 1.00 ng/dL were reviewed. Results Of 2777 preterm infants, 73 cases (2.6%) were diagnosed as CH. The average TSH levels at the first and second screenings were 20.85 and 15.42 mU/L, respectively. The patients were treated with thyroxine at an average initial dosage of 15 μg/kg/day. At 2-3 years of age, after thyroxine discontinuation for 6-10 weeks and regular thyroid function tests for 2 years, 58 patients (79.5%) were diagnosed as having transient CH and 15 patients (20.5%) were diagnosed as having permanent CH. We found no clinical or laboratory parameters in the neonatal period that could differentiate permanent from transient CH. Thyroid scintigraphy (99 m pertechnetate) revealed two patients (13.3%) with ectopic thyroid, one with thyroid hypoplasia (6.7%), eight with normal thyroid (53.3%) and four with enlarged thyroid (26.7%). Conclusions CH was common in preterm infants with an estimated incidence of 2.6%. Thyroxine should be given to preterm infants with higher initial values of TSH >10 mU/L in order to prevent delayed treatment of permanent CH that could be confirmed later.

Congenital hypothyroidism: a five-year retrospective study at Children's University Hospital, Damascus, Syria.

Background: Congenital hypothyroidism (CH) is a treatable thyroid hormone deficiency that causes severe mental retardation and growth deficiency if not detected and treated early. The treatment of CH is simple, inexpensive, and effective. With early detection and treatment, infants usually develop normally without mental retardation and become productive members of society. In Syria, a screening program is not available, and there is no published information about the actual incidence of CH. However, an unpublished pilot study supported by the International Atomic Energy Agency showed that the incidence of CH in Syria is more than the global incidence, indicating the importance of the application of a CH screening program in Syria. Objectives: The present study aimed to collect baseline information about CH in Syria to estimate the potential need of a screening program. Materials and methods: This retrospective study was performed at Children's University Hospital, Damascus. The study included the medical records of patients who had CH as the final diagnosis between 2008 and 2012. Some patients were diagnosed elsewhere and were then admitted to the hospital within the same period. Results: In this study, 70 cases registered as CH, 67 of them had confirmed, 40 (57.1 %) were male and 30 (42.9%) were female. Among the patients, (51.4%, n = 36) involved parental consanguinity and 6 had a family history of hypothyroidism. Additionally, 74.3% were not diagnosed during the first month of life. The signs and symptoms most commonly detected were cretinoid face (60%), pallor (44.3%), delayed neuropsychomotor development (37.1%), growth failure (36.7%), jaundice (35.7%), and hypotonia (35.7%). Conclusion: A CH screening program is necessary in Syria owing to the low specificity of the signs and symptoms of CH, which can lead to delayed diagnosis, and the presence of asymptomatic cases (subclinical hypothyroidism).

Investigation of the incidence rate and geographical distribution of congenital hypothyroidism in the newborns in Ilam Province by using geographic information system (GIS) between 2006 and 2016

Background and Aim: Congenital hypothyroidism is an endocrine disorder and is one of the main causes of mental retardation in the newborns. Genetic, environmental and geographical factors are associated with the disease. This study aimed to evaluate the incidence rate and correlation of geographical factors with congenital hypothyroidism in Ilam Province. Materials and Methods: This study was a descriptive analytical study and evaluated the incidence rate and geographical distribution of congenital hypothyroidism in the newborns in Ilam Province from the beginning of 2006 to the end of 2016. We studied the results of heel samples of the newborns between 3 to 5 days of age who had been screened for congenital hypothyroidism in the referral laboratories of the health centers of the health department of the Ilam University of Medical Sciences in all cities of Ilam Province. We used ArcGIS (ver 10.3) software for evaluation of geographical distribution. Statistical tests of Poisson regression and scatter plot were used to investigate the relationship between geographical factors and the incidence rate of congenital hypothyroidism. Data analysis was performed by use of SPSS 16 software. Results: Based on the findings of the screening of 106900 newborns born in Ilam Province, the incidence of congenital hypothyroidism in this study was 2.61 in 1000 live births (2.7 male newborns / 1000 live births, and 2.48 female newborns / 1000 live births). Among all the patients 55.4 were male and 44.6 were female. There was a significant correlation between the mean annual rainfall and herbal coverage with congenital hypothyroidism (p 0.05). Conclusion: Based on the findings of this study, incidence of congenital hypothyroidism is high in Ilam Province. Abdanan and Ilam cities had the highest incidence rates of hypothyroidism and are among the high risk hotspots of the disease. As a result, authorities should take appropriate measures in order to control and reduce the incidence of this disease in the province. Also, among the geographical factors, the mean annual rainfall, herbal coverage and sunlight were associated with congenital hypothyroidism. © 2019 the Author (s).

Epidemiology of congenital hypothyroidism in France: recent data

Congenital hypothyroidism (CH) is the leading cause of preventable mental retardation. It is mainly due to thyroid dysgenesis or dyshormonogenesis with normally located gland, and detected at birth in developed countries, by mass biochemical screening of newborns. An increase in the incidence of congenital hypothyroidism with a normally located gland has been reported worldwide over the last three decades. The etiology of CH with a normally located gland remains elusive and the factors driving its clinical diversity are largely unknown. A role for known dyshormonogenesis-associated genetic variants or TSH receptor gene variants is well-known, but the possible effects of environmental agents toxic to the fetal and neonatal thyroid gland are currently being investigated.

Cord blood thyroid-stimulating hormone as a screening tool for congenital hypothyroidism: A single-center 5-year experience

Introduction: Congenital hypothyroidism remains one of the most common preventable causes of mental retardation in the pediatric age group. Screening for congenital hypothyroidism is one of the most cost-effective tools to prevent mental retardation among the general population. Umbilical cord blood thyroid-stimulating hormone (CB TSH) estimation remains an easily available option for screening for congenital hypothyroidism. Aim: The aim of this study was to find normative values of CB TSH for the study group and to use CB TSH levels as a screening tool for congenital hypothyroidism. Design: This study was a cross-sectional study. Setting: This study was conducted in a private medical college. Materials and Methods: CB TSH levels were measured in 2916 neonates using chemiluminescence immunoassay. All neonates who had an umbilical CB TSH level >20 mIU/ml were called back on day 7 for a repeat thyroid profile testing. Results: CB samples of 3102 neonates were tested for TSH; of them, 186 samples were hemolyzed, and hence, 2916 neonates formed the study group. Male-to-female ratio was 1544:1378, i.e., 1.2.1. The birth weights of the study group ranged between 0.8 kg and 4.76 kg, with the average birth weight being 2.9 kg. The cohort was divided into two groups: Group 1 (n = 1983) comprised of neonates who were born term and Group 2 (n = 933) comprised of neonates who were born before term gestation. TSH values ranged between 1.2 and 100 mIU/ml. The mean TSH value of the cohort was 7.17 mIU/ml. The mean TSH value in Group 1 was 6.89 mIU/ml, whereas in the Group 2, it was 7.57 mIU/ml. TSH values corresponding to the 3rd, 10th, 25th, 50th, 75th, 90th, 95th, and 97th percentile were 2.3, 2.9, 3.48, 5.4, 7.1, 10.67, 13.4, and 21.4, respectively, in Group 1, whereas TSH values corresponding to the 3rd, 10th, 25th, 50th, 75th, 90th, 95th, and 97th percentile in Group 2 were 2.32, 3.12, 4.12, 5.63, 7.65, 10.67, 13.4, and 22, respectively. Seventy neonates (2.4%) had a CB TSH value >20 mIU/ml and had to be recalled for a repeat workup. Of the 70 babies recalled for repeat testing, 59 turned up and eventually two turned out to be hypothyroid on repeat testing. The incidence of congenital hypothyroidism in our study was 1 in 1458. To conclude, we can safely use a cutoff of CB TSH >20 mIU/ml for screening for congenital hypothyroidism. Conclusion: A cut off Cord Blood TSH value > 20 IU/ml can be used for screening purpose.

Neonatal Screening for Congenital Hypothyroidism in Nicaragua: Audit of a Cord-blood Thyrotropin-based Program (2005-2015)

Abstract The aim of this study is to evaluate the Nicaraguan screening program for congenital hypothyroidism in terms of coverage and effectiveness of detection and confirmation of cases with the condition throughout a decade. Thyrotropin was quantified in cord-blood samples by a validated ELISA and a cut-off of 20 mU/l was applied. Coverage, positive predictive value, recall rate and prevalence were retrospectively analysed. Babies with positive screening results were contacted for confirmation by means of determination of thyrotropin and thyroid profile in serum samples. 272,338 babies were screened during the period 2005-2015. The mean coverage reached by the program in the participating departments was 71%, with a positive predictive value of 83% and a recall rate of 0.055%. Eighty cases of congenital hypothyroidism were identified, representing an incidence of 1 in 3229 live births, most of them (81%) being severe. The performance of the Nicaraguan screening program is comparable to those in Latin America also using cord-blood samples. The incidence of congenital hypothyroidism is within the low range of other countries worldwide. Strategies are needed to expand the program to the whole country, improve recall rates and achieve earlier treatment of babies, with the condition.

NEONATAL SCREENING FOR CONGENITAL HYPOTHYROIDISM IN ROMANIA: DATA FROM MEDILOG MEDICAL INFORMATION REGISTRY.

Congenital hypothyroidism (CH) is one of the common preventable causes of intellectual disability in neonates, by early detection through neonatal screening. We present the 8-year experience of the National Institute for Mother and Child Health (INSMC) in using MEDILOG national registry for the neonatal screening of CH. Neonatal screening for CH, done by TSH measurement in dried blood spot, is organized in 5 regional centers, each with a reference laboratory. In 2018 80% of all the newborns, from 80% of the maternity hospitals, were registered in MEDILOG. After re-testing of TSH and T4/FT4 from venous blood in positive cases, the incidence of confirmed CH in 2018 was 1/3576 - 1/ 4746. In INSMC center (which includes 26 counties and Bucharest, out of 41 counties), in 2018 the incidence of positive CH cases at screening was 1/2094 (TSH cut-off ≥17 mIU/L) and of confirmed CH cases 1/3576 newborns. For positive screening cases, the median duration from birth to the INSMC laboratory result was 19 days: median of 9 days between screening and laboratory registration and 6 days between registration and test result. MEDILOG registry is a practical instrument for monitoring the steps of neonatal CH screening, the incidence of CH, the evolution of the diagnosed cases, for evaluation of iodine deficiency (by neonatal TSH), and also for research, with the aim of improving early disease detection and treatment.

Increased Congenital Hypothyroidism Detection in Preterm Infants with Serial Newborn Screening

To determine the incidence of congenital hypothyroidism in preterm infants and to identify associated risk factors. A population-based cohort study was performed in preterm infants born at <32 weeks of gestational age between 2012 and 2016 in Wisconsin. Newborn screening (NBS) results and demographic data were obtained from the Wisconsin State Laboratory of Hygiene. Congenital hypothyroidism was subdivided to early TSH elevation (eTSH) and delayed TSH elevation (dTSH). Multivariate logistic regression analyses were performed to identify demographic factors associated with dTSH. A total of 3137 preterm infants born at 22-31 weeks of gestational age were included in the study. Mean gestational age was 28.4 ± 2.4 weeks and mean birth weight was 1191 ± 399 g. Forty-nine infants were diagnosed with congenital hypothyroidism. The overall incidence of congenital hypothyroidism was 1.56%, including a 0.13% incidence of eTSH and a 1.43% incidence of dTSH. Birth weight <1000 g, multiple gestation, and initial TSH level were identified as independent predictors for dTSH. Targeted serial NBS in Wisconsin led to a higher rate of diagnosis of congenital hypothyroidism in preterm infants than has been reported previously. The majority (92%) of congenital hypothyroidism cases were diagnosed with dTSH. Birth weight <1000 g, multiple gestation, and elevated initial TSH level were associated with increased risk for development of dTSH. We recommend obtaining targeted serial NBS in preterm infants (<32 weeks of gestational age) to improve the detection of congenital hypothyroidism.

Dépistage de l’hypothyroïdie congénitale au Maroc : étude pilote

In Morocco we have no reliable information on the incidence of congenital hypothyroidism (HC). The aim of our study was to explore the feasibility of a neonatal screening program for this disease in Morocco. We conducted a screening campaign in the HC 15 615 newborns in the wilaya of Fez in north-central Morocco. Positive cases have been followed up during seven years. Over the same period, we conducted a retrospective qualitative study among parents of newly screened positive newborns and health professionals. Twelve cases of hypothyroidism have been confirmed, a frequency 1p1301 births. When excluding 4 cases of hypothyroidism transients, the frequency of HC becomes 1p1952 births, athyreosis represents 25% of cases, partial agenesis 25% of cases and 50 % of cases had normal thyroid glands in place; 67% are female and 33% male. The average age of testing was 17.1 ± 6.6 days and the start of treatment was 43.4 ± 8.7 days. Tracking cases brought under replacement therapy showed a good evolution of anthropometric parameters and psychomotor. The qualitative study found that parents are monitoring their babies very seriously despite the very low socio-economic class of the vast majority of them. The results of our study support the need for the establishment of a neonatal screening programme for congenital hypothyroidism in Morocco.

Newborn Screening and Molecular Profile of Congenital Hypothyroidism in a Chinese Population.

To review the characteristics of newborn screening of congenital hypothyroidism (CH), we reviewed the newborn screening data, including the levels of blood spot thyroid-stimulating hormone (TSH), and serum TSH and free thyroxine (FT4), of all newborn infants who accepted the newborn screening program during the last 14 years. In total, 437,342 newborn infants underwent CH screening and 192 infants were diagnosed with CH and the incidence of CH was 1:2278. The positive rate of the initial screening was 0.96%, and the positive predictive value was 4.8%. We also designed a target sequencing panel including 13 causative genes: DUOX2, TG, TPO, TSHR, TTF1, TTF2, PAX8, NKX2-5, GNAS, THRA, TSHB, IYD and SLC5A5, to identify the spectrum and prevalence of disease-causing gene mutations in Chinese CH patients. CH-causing genes were detected by targeted next-generation sequencing in 106 CH infants. A total of 132 mutations were identified in 69 cases (65.1%). Of these 132 mutations, 92 (69.70%), 28 (21.21%), and 12 (9.09%) were related to thyroid dyshormonogenesis, thyroid dysgenesis, and thyrotropin resistance, respectively. Mutations in CH-causing genes were found mainly in DUOX2, TG and TSHR, and DUOX2 is the most gene mutation in Chinese CH patients.

Incidence of Congenital Hypothyroidism Over 37 Years in Ireland.

Congenital hypothyroidism (CHT) is one of the most common preventable causes of learning disability. Newborn screening with whole-blood thyroid-stimulating hormone measurements was introduced in the Republic of Ireland in 1979 and is coordinated from a single center with an unchanged protocol since its inception. Our objective in this study was to describe the incidence of CHT in the Republic of Ireland over the past 37 years in the context of a complete national population and an unchanged screening protocol. The newborn screening records of all individuals who were diagnosed with CHT between 1979 and 2016 were reviewed. Infants with positive screening results had a whole-blood thyroid-stimulating hormone value of ≥15 mU/L at 72 to 120 hours of life; values of 8 to 15 mU/L required a repeat whole-blood screening test. Of 2 361 174 infants who were screened between July 1979 and December 2016, 1063 (662 girls) were diagnosed with CHT (incidence: 0.45 cases per 1000 live births). The number of detected cases increased from 0.27 cases per 1000 live births treated between 1979 and 1991 to 0.41 cases per 1000 live births treated between 1992 and 2004 to 0.65 cases per 1000 live births treated between 2005 and 2016. The increase in detected cases of CHT was predominantly in the normal or hyperplastic gland category. The incidence of CHT has increased significantly in the Republic of Ireland over the past 37 years despite a consistent screening cutoff. The increased rate was not explained by an increased survival rate of preterm infants or a changing population heterogeneity.

Congenital Hypothyroidism: Inside Ireland's Incline.

* Abbreviations: NBS — : newborn screening TSH — : thyroid-stimulating hormone The incidence of congenital hypothyroidism diagnosed after clinical presentation is 1:7000 to 1:10 000.1 As detected by newborn screening (NBS) programs starting in the mid-1970s, the incidence increased to 1:3800 to 1:4000,2 presumably reflecting detection of all cases. Then, between 2002 and 2010, several NBS programs in the United States3 and around the world4–6 reported a doubling of the incidence to 1:2000. What explains this rather dramatic increase over a few decades? In a workshop sponsored by the US Centers for Disease Control and Prevention and the National Newborn Screening and Genetics Resource Center held in 2008, several factors were found: Address correspondence to Stephen H. LaFranchi, MD, Department of Pediatrics, Oregon Health and Sciences University, 707 SW Gaines St, Portland, OR 97239. E-mail: lafrancs{at}ohsu.edu

Incidence of congenital hypothyroidism in China: data from the national newborn screening program, 2013-2015

Incidence of congenital hypothyroidism in China: data from the national newborn screening program, 2013-2015

Newborn Screening for Primary Congenital Hypothyroidism: Estimating Test Performance at Different TSH Thresholds

ContextActive surveillance of primary congenital hypothyroidism (CH) in a multiethnic population with established newborn bloodspot screening.ObjectiveTo estimate performance of newborn screening for CH at different test thresholds and calculate incidence of primary CH.DesignProspective surveillance from June 2011 to June 2012 with 3-year follow-up of outcomes. Relative likelihood ratios (rLRs) estimated to compare bloodspot TSH test thresholds of 6 mU/L and 8 mU/L, with the nationally recommended standard of 10 mU/L for a presumptive positive result.SettingUK National Health Service.PatientsClinician notification of children aged <5 years investigated following clinical presentation or presumptive positive screening result.Main Outcome Measure(s)Permanent primary CH status determined by clinician report of continuing T4 requirement at 3-year follow-up.ResultsA total of 629 newborns (58.3% girls; 58.7% white ethnicity) were investigated following presumptive positive screening result and 21 children (52.4% girls; 52.4% white) after clinical presentation; 432 remained on treatment at 3-year follow-up. Permanent CH incidence was 5.3 (95% CI, 4.8 to 5.8) per 10,000 infants. With use of locally applied thresholds, sensitivity, specificity, and positive predictive value were 96.76%, 99.97%, and 66.88%, respectively. Compared with a TSH threshold of 10 mU/L, positive rLRs for 8 mU/L and 6 mU/L were 1.20 (95% CI, 0.82 to 1.75) and 0.52 (95% CI, 0.38 to 0.72), and negative rLRs were 0.11 (95% CI, 0.03 to 0.36) and 0.11 (95% CI, 0.06 to 0.20), respectively.ConclusionsScreening program performance is good, but a TSH threshold of 8 mU/L appears superior to the current national standard (10 mU/L) and requires further evaluation. Further research should explore the implications of transient CH for screening policy.

Early Determinants of Thyroid Function Outcomes in Children with Congenital Hypothyroidism and a Normally Located Thyroid Gland: A Regional Cohort Study.

An increase in the incidence of congenital hypothyroidism (CH) with a normally located gland has been reported worldwide. Affected individuals display transient or permanent CH during follow-up in childhood. This study aimed to determine the prevalence of transient CH and to investigate the possibility of distinguishing between transient and permanent CH in early infancy. This observational cohort study included all patients identified by systematic neonatal screening for CH in the northern Parisian region between 2002 and 2012 and treated for CH with a normally sited gland. A standardized data collection form was completed prospectively at diagnosis. Patients were classified during follow-up as having transient or permanent CH. Of the 92 patients initially treated for CH with a normally located gland during the neonatal period, 49 (54%) had a transient form of CH after the cessation of levothyroxine (LT4) treatment at 1.5 (0.6-3.2) years of age. Multivariate analysis revealed that transient CH was associated with a lower likelihood of having a first-degree family history of CH (p = 0.03) and a lower LT4 dose at six months of age (p = 0.03) than permanent CH. Sex, ethnicity, neonatal problems (e.g., prematurity, being small for gestational age, and/or neonatal distress), iodine status, coexisting malformations, initial CH severity, and thyroid morphology at diagnosis had no effect. Receiver operating characteristics curve analysis showed that a cutoff of 3.2 μg/kg/day for LT4 dose requirement at six months of age had a sensitivity of 71% and a specificity of 79% for predicting transient CH, with values below this threshold considered predictive of transient CH. In patients with CH and a normally located gland, these findings highlight the need to evaluate LT4 dose requirements early, at six months of age, particularly in patients with no family history of CH, for early identification of the approximately 50% of patients for whom treatment should be stopped.

The etiologies and incidences of congenital hypothyroidism before and after neonatal TSH screening program implementation: a study in southern Thailand.

Congenital hypothyroidism (CH) is one of the common causes of intellectual disability which can be prevented by early detection of an elevated thyroid stimulating hormone (TSH) level in the newborn and by treatment with thyroxine. In Thailand, neonatal TSH screening was implemented nationwide in 2005. The objective of the study was to determine the etiologies and the estimated incidences of CH in southern Thailand before and after the implementation of a neonatal TSH screening program in 2005. The medical records of pediatric patients who were diagnosed with primary CH at Songklanagarind Hospital during 1995-2013 were retrospectively reviewed. The study was divided into two time periods: study period 1 (SP1) (1995-2004) and study period 2 (SP2) (2005-2013), the time before and after TSH program implementation. The most common form of CH during SP1 was overt permanent CH (66%), mostly caused by athyreosis or ectopic thyroid. In SP2, the most common form of CH was mild permanent CH (39%) (mostly due to dyshormonogenesis), followed by overt CH (32%) and transient CH (29%). The overall annual estimated incidence of CH per 10,000 live births in Songkhla Province was 1.69 (1:5021) in SP1, increasing to 4.77 (1:2238) in SP2; in all 14 provinces in southern Thailand, the estimated incidence was 1.24 (1:8094) in SP1 and 2.33 (1:4274) in SP2. Neonatal TSH screening has a significant impact on the increased detection of the mild form of permanent and transient CH cases, which may be important for the prevention of brain damage from less severe CH although this remains to be documented.

Current status of the congenital hypothyroidism neonatal screening program in Adana Province, Turkey.

Congenital hypothyroidism (CH) is a common cause of mental retardation; it has a worldwide incidence ranging from 1:3000 to 1:4500 live births. Predictably, an increase in the reported incidence of primary CH occurs when the cut-off levels of thyroid-stimulating hormone are lowered. We aimed to evaluate the results of a congenital hypothyroidism screening program and current status in this study. Analysis results of 1300 infants who were referred to the endocrinology polyclinic because of suspected CH within the scope of the Ministry of Health National Neonatal Screening Program were retrospectively evaluated. The diagnosis of CH and initiation of treatment were both done in 223 (18.5%) and 10 (0.8%) infants as a result of the initial evaluation and follow-up, respectively. The mean capillary and venous thyroid-stimulating hormone (TSH) levels of 223 patients were 40.78 (5.5-100) μIU/mL and 67.26 (10.7-100) μIU/mL, respectively. These patients' mean heel prick time was 8.65 (0-30, median: 7) days. The mean age of the 223 infants whose treatment was initiated as a result of the initial evaluation was 19.87 (4-51, median: 20) days, and the mean age of the infants whose treatment was started at follow-up was 43.71 (29-65) days. The duration between heel prick time and venous TSH time was 11.10 (2-28, median: 11) days and was longer than planned (3-5 days). Although the duration for the diagnosis and initiation of CH treatment were markedly reduced with the implementation of the screening program in Turkey compared to those before the implementation of the screening program, we have not yet achieved the ideal time (≤14 days).

Incidence of congenital hypothyroidism in China: data from the national newborn screening program, 2013-2015.

Congenital hypothyroidism (CH) is one of the most frequent, preventable causes of mental retardation. Little has been reported on the epidemiological characteristics of CH in China. We aimed to estimate the incidence of CH in China and investigate its geographical variation. We analyzed data from the nationwide newborn screening program for CH between 2013 and 2015. Poisson regression was used to generate the odds ratios (ORs) and 95% confidence intervals (CIs) between the rates of CH and selected demographic characteristics and assess the potential association between CH incidence and geographical locations. A total of 18,666 patients with CH were identified from 45.2 million newborns, yielding an overall incidence rate of 4.13 per 10,000 live births. Compared with those in the remote area, regardless of infant sex, a higher incidence risk for CH was present in newborns in coastal areas and inland areas (females: OR=2.00, 95% CI: 1.86-2.16 and OR=1.74, 95% CI: 1.61-1.87, respectively; males: OR=1.70, 95% CI: 1.59-1.83 and OR=1.52, 95% CI: 1.42-1.63, respectively). Additionally, the highest risk of CH for thyroid-stimulating hormone (TSH) screening values <40 mU/L was observed among neonates in the coastal areas, while TSH screening values of 70-100 mU/L were observed among those in the inland areas. The overall incidence of CH is high in China. The significant geographical variations of CH incidence are presented in this study.

MicroRNA-124-3p inhibits the progression of congenital hypothyroidism via targeting programmed cell death protein 6.

The incidence of congenital hypothyroidism (CH) in newborn infants ranges from 1 in 3,000 to 1 in 4,000. Previous studies have indicated the neuroprotective role of microRNA (miR)-124-3p, however the expression and role of miR-124-3p in CH remain unclear. Therefore, the present study was performed to investigate the role and precise molecular mechanism of miR-124-3p in CH. Propylthiouracil (50 mg/day) was injected into the stomach of pregnant rats from gestational day 15 until parturition in order to establish a thyroid hypofunction model. Newborn rats were divided into the following four groups: The control group; the thyroid hypofunction group; the miR-124-3p mimic group; and the miR-124-3p negative control group. Reverse transcription-quantitative polymerase chain reaction indicated that miR-124-3p was significantly decreased in the hippocampus of the thyroid hypofunction group compared with the control group. Bioinformatics software was used to predict mRNA targets recognized by miR-124-3p and the programmed cell death protein 6 (PDCD6) 3' untranslated region (UTR) was demonstrated to exhibit the seed sequence of miR-124-3p. The interaction between miRNA-124-3p and PDCD6 was then verified using a dual-luciferase reporter assay system. PDCD6 expression was significantly increased in the hippocampus of rats with CH compared with the control group. Flow cytometry was performed to investigate the effects of miR-124-3p on neuronal cell apoptosis and the results indicated that the apoptosis rate in the thyroid hypofunction group was significantly increased compared with the control group; this increase was reversed by transfection with miR-124-3p mimics. Western blot analysis was used to detect the levels of cleaved poly [ADP-ribose] polymerase (PARP), full-length PARP, caspase-3, B cell lymphoma-2 (Bcl-2) and Bcl-2-associated X protein (Bax) proteins. The results indicated that the expression of cleaved PARP, caspase-3 and Bax protein were significantly increased and the expression of full-length PARP and Bcl-2 protein was significantly decreased compared with the control group. These effects were reversed by miRNA-124-3p mimic transfection. Taken together, the results of the present study demonstrate that miRNA-124-3p serves a protective role in CH via targeting PDCD6.

Screening for congenital hypothyroidism in the Russian Federation

Background. Neonatal screening for congenital hypothyroidism (CH) allows the timely diagnosis of disease and onset of replacement therapy. Analytical research in the field of health care provides the basis for making managerial decisions, in particular by public authorities.&#x0D; Objective — the study objective was to analyze the results of neonatal screening for congenital hypothyroidism in the Russian Federation.&#x0D; Material and methods. We analyzed reports of local health authorities (LHAs) on the results of activities of regional medical and genetic services, which were monthly submitted to the Ministry of Health of the Russian Federation. The reports included the number of newborns, examined newborns, and newly diagnosed CH cases.&#x0D; Results. According to the results of neonatal screening, the rate of CH detection in the Russian Federation was 1 case per 3,617 newborns (maximum, 1 per 2379; minimum, 1 per 4752 in different federal districts). The coverage of neonatal screening for CH in the Russian Federation varies by years and regions, from 67.9% (1997) to 99.8% (2012) and from 81.7% (North Caucasian Federal District) to 99.9% (Central Federal District). With the percentage of newborn screening coverage more than 70%, each additional coverage percent results in detection of 6—7 new CH cases.&#x0D; Conclusion. The conducted analysis indicates the need for further studying the features of congenital hypothyroidism incidence in different regions of the Russian Federation and improving organizational processes of neonatal screening for CH.