Screening For Hypothyroidism Research Articles

PSAT303 Fecal Impaction as a Gastrointestinal Prodrome of Myxedema Coma in an Elderly Woman with Multiple Co-morbidities

Abstract Introduction Fecal impaction is a common occurrence in the elderly, with the most common risk factor being chronic constipation. A common cause of chronic constipation that can be overlooked in the elderly is hypothyroidism. If left untreated, hypothyroidism can have life-threatening manifestations including myxedema coma. In this case report, we describe a rare case of myxedema coma with prodromal fecal impaction. Case description An 87-year-old female with a past medical history of colon cancer status post partial colectomy, stroke, and end stage renal failure (ESRD) requiring hemodialysis, presented to the emergency department with extreme rectal pain. She was found to have fecal impaction on abdominal x-ray and was manually disimpacted and discharged home. Five days later, she presented with altered mental status in the setting of a new active herpes zoster infection and possible pneumonia. She was hypothermic (95F) and hypoxic, needing supplemental oxygen (2 L nasal cannula). Her labs showed hyponatremia (133 mg/dL), hypoglycemia (43 mg/dL), an elevated TSH level (100.0 mIU/ml) and decreased free T4 level (0.9 ng/L). Her EKG showed first-degree AV block with low voltage QRS complexes and her chest x-ray demonstrated bilateral pleural effusions. A CT scan of her head did not show hemorrhage or stroke. Given her classic clinical presentation and lab work findings, myxedema coma was diagnosed and the patient was treated with levothyroxine and hydrocortisone, though she was later transitioned to hospice as per her wishes. Discussion Chronic constipation is a known etiology of fecal impaction and can be caused by many chronic conditions in the elderly including ESRD, immobility, and hypothyroidism. Fecal impaction is easily identified but the investigation for the etiology is often overlooked. In this case, we argue that patients with an initial presentation of fecal impaction or with severe and unexplained constipation may warrant screening for hypothyroidism as a manageable risk factor for fecal impaction. By doing so, early recognition and treatment of hypothyroidism may prevent potentially fatal patient outcomes such as myxedema coma. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.

Screening, diagnosis and management of hypothyroidism in pregnancy.

Screening, diagnosis and management of hypothyroidism in pregnancy.

Result Representation of Congenital Hypothyroid Screening (CHS) Based on Area Topography in Bandar Lampung City in May-October 2019

Congenital Hypothyroid Screening (CHS) is a screening test performed on neonates to detect Congenital Hypothyroidism (CH). Screening is important to prevent delays in the diagnosis and management of CH. Until now, Indonesia does not have data on the result representation of national and regional CH based on regional topography. This descriptive research used a cross-sectional design. The research was conducted at the Public Health Office of Bandar Lampung. This research used the secondary data of the incidence of CHS, CHS service provider health facilities, and babies born alive in May-October 2019. The results’ representation is then grouped by subdistrict and topography of the region (tidal, choppy to wavy, and hilly to mountainous). The number of CH incidents was highest in Panjang District (235 data) and there was no CHS data in Enggal Subdistrict. The result representation was the highest in Tanjung Karang Timur District (41%). An overview of the result representation by sub- district was obtained by 18%. Overview of the result representations were in tidal topographic areas with 24%, choppy to wavy had a percentage of 18%, and the lowest hilly to mountainous areas had 15%. The topographical areas that have the highest result representation of CHS results are tidal areas, while the lowest are hilly to mountainous areas.

Severe neonatal hyperbilirubinemia secondary to combined RhC hemolytic disease, congenital hypothyroidism and large adrenal hematoma: a case report

BackgroundABO blood group incompatibility, neonatal sepsis, G-6-PD deficiency, thyroid dysfunction, and hereditary spherocytosis are all probable causes of neonatal hyperbilirubinemia. However, the etiology of some hyperbilirubinemia is extremely complicated, which may be caused by multiple factors, resulting in severe jaundice. We report a case of severe jaundice due to three causes, showing the significance for the investigation of the etiology of neonatal hyperbilirubinemia.Case presentationAt 96 h of life, a full-term and vaginal delivery male infant with yellowish discoloration of body was transferred to our hospital. When he entered neonatal intensive care unit on the fourth day after birth, he developed jaundice and the transcutaneous bilirubin was 28 mg/dl. Total bilirubin was 540.2 μmol/L, while the indirect bilirubin was 516.7 μmol/L. Both parents and the baby’s blood types were O Rh(D +), and direct coomb’s test was negative. But mother’s indirect coomb’s test was positive. Investigating for minor blood group revealed that the father’s blood type of Rh was CCDee, the mather’s was ccDEE, and CcDEe for the baby. After intensive phototherapy and double volume exchange transfusion, the total bilirubin remained at 303 μmol/L. At day 10, the bilirubin level was 303.5 μmol/L, intensive phototherapy was continued, and intravenous immunoglobulin was used again. The test for thyroid hormones at day 10, the TSH was 13.334mIU/L. And the screening for congenital hypothyroidism showed the TSH was 33mIU/L. Because of the palpable abdominal mass, ultrasound and MRI was done, showed a huge mass in the right adrenal gland. Brainstem auditory evoked potential was performed at day 7, which indicated hearing impairment (65db for left ear and 70db for the right). Euthyrox and intermittent phototherapy were given as following treatment. The jaundice did not subside until the 12th day.ConclusionEven if their parents' ABO blood group and Rh (d) are consistent, a Coomb test is required for newborns with hyperbilirubinemia since they may have minor blood group incompatibilities. When bilirubin rises rapidly or the clinical treatment effect is inadequate, additional causes should be aggressively screened. Adrenal ultrasound should be performed on newborns with palpable abdominal mass, anemia and jaundice to determine whether there is adrenal hemorrhage.

The role of Zulewski’s clinical score in screening for hypothyroidism in post-radiation therapy nasopharyngeal carcinoma patients

Background: Nasopharyngeal carcinoma (NPC) is a leading cause of cancer related death in Asia; and the fourth most common malignancy in Indonesia. Hypothyroidism is one of the most commonly overlooked radiotherapy-induced late side effect due to its gradual occurrence despite its irreversibility. Unfortunately, thyroid evaluation is not widely accessible throughout Indonesia. Therefore, it is quite important to utilize a simple and reliable surrogate tool for hypothyroidism screening. This study aims to evaluate thyroid function and to validate Zulewski’s scoring system as a temporary surrogate marker for hypothyroidism in post-RT NPC patients. Method: This is a cross-sectional study involving NPC patients between November 2015 and March 2016 at Dr. Cipto Mangunkusumo General Hospital, Jakarta, Indonesia. The patients had completed radiation therapy (RT) within the preceding six months. They were evaluated for signs and symptoms of hypothyroidism with Zulewski’s clinical scoring system and with serological analysis of thyroid stimulating hormone (TSH) and free thyroxine (FT4) levels. Results: There were 97 patients in this study. 28 (28.9%) subjects experienced hypothyroidism based on the TSH and FT4 levels, with subclinical hypothyroidism (13.4%) as the most common type, followed by overt hypothyroidism (9.3%) and hypothyroxinemia (6.2%). From the subjects with hypothyroidism, 19.6% had Zulewski’s clinical score <5, while 40.5% had scores ≥5. Subjects with <5 Zulewski’s clinical score exhibited signs and symptoms more related to the NPC itself, while those who scored ≥5 showed signs and symptoms more closely related to hypothyroidism. Conclusion: This study shows that hypothyroidism is commonly exhibited in NPC patients after radiotherapy (28.9%). Zulewski’s clinical score of ≥5 indicates signs and symptoms more closely related to hypothyroidism.

Fifty years of newborn screening for congenital hypothyroidism: current status in Australasia and the case for harmonisation

Since its implementation 50 years ago in Quebec, Canada, newborn screening for congenital hypothyroidism has become one of the most successful public health measures worldwide. Screening programmes across Australia and New Zealand are characterised by significant commonalities in screening algorithms, and a high degree of regional cooperation in harmonisation efforts. We aimed to conduct a comprehensive survey of current performance and practices related to the total testing process for congenital hypothyroidism screening and provide recommendations for harmonisation priorities within our region. A survey was conducted involving the six newborn screening laboratories which provide complete geographic coverage across Australasia. Approximately 360,000 newborns are screened annually. Survey questions incorporated pre-analytical, analytical, and post-analytical aspects of the screening programmes and an extensive 5-year (2016-2020) retrospective analysis of individual programme performance data. Responses from individual screening programmes were collated. The uptake of newborn screening was over 98% for the six major jurisdictions. All programmes have adopted a single-tier thyroid stimulating hormone (TSH) strategy using the Perkin Elmer GSP instrument. Significant similarities exist between programmes for recommended age of collection and recollection protocols for low birthweight newborns. The process for the determination of TSH cutoffs varies between programmes. TSH lower cut-offs for borderline-positive and positive notifications between 12-15 and 12-25mIU/L blood, respectively. Recall rates vary between 0.08 and 0.20%. The case definition forcongenital hypothyroidism generally includes biochemical and radiological parameters in addition to the commencement of thyroxine. All programmes reported collecting biochemical and clinical data on infants with positive screening tests, and positive predictive values vary between 23.6 and 77.3%. Variation in reported incidence (1:1,300-2,000) cannot be entirely explained by cutoff or recall rate (although one programme reporting fewer cases includes only permanent disease). Despite similarities between newborn screening algorithms for congenital hypothyroidism across Australia and New Zealand, differences in reported programme performance provide the basis for further harmonisation. Surveillance of a large population offers the potential for the ongoing development of evidence-based screening guidelines.

Preconception Counseling in Patients with Hypothyroidism and/or Thyroid Autoimmunity.

Preconception counseling is an essential tool for preventing adverse pregnancy outcomes associated with thyroid dysfunction. The high prevalence of thyroid disease among women of reproductive age, and the increased risk of adverse pregnancy outcomes associated with thyroid dysfunction, emphasize the necessity for well-established screening and treatment criteria in the preconception period. We therefore conducted a literature review for relevant information on the screening, diagnosis and treatment of subclinical and overt hypothyroidism in women seeking pregnancy. While screening for thyroid disease is recommended only in the presence of risk factors, iodine supplementation should be recommended in most regions, with higher doses in areas with severe deficiency. Known hypothyroid women should be counseled about increasing their levothyroxine dose by 20–30% in the case of suspected or confirmed pregnancy (missed menstrual cycle or positive pregnancy test). Treating subclinical hypothyroidism appears to be beneficial, especially in the presence of autoimmunity or in patients undergoing artificial reproductive techniques. Regarding the management of TPOAb negative SCH women or euthyroid women with positive TPOAb, further research is necessary in order to make evidence-based recommendations.

Neonatal thyrotropin - indicatior of monitoring of iodine deficiency severity. What's level is considered a «cutoff point»?

The issues of monitoring the effectiveness of iodine deficiency prevention programs are an important component in the process of iodine elimination. Neonatal thyrotropin (TSH) has been used as a criterion for the severity of iodine deficiency since 1994, however, the question of the "cut-off point" of the neonatal TSH level has been widely discussed in the recent literature. Evaluate the criterion for neonatal hyperthyroidism above 5 mIU/l from the perspective of monitoring iodine deficiency and establish a «cut-off point» on the model of healthy pregnant women with adequate iodine status. A prospective study was conducted in a population of pregnant women in the city of Tyumen, with the formation of observation groups according to the level of iodine excretion in the urine - the main group (with adequate iodine status throughout the entire gestation period) and the comparison group (women with iodine levels less than 150 μg/l). The results of neonatal screening for congenital hypothyroidism in children of women participating in the study were evaluated. The frequency of neonatal TSH above 5mIU/l was assessed in the observation groups. ROC-analysis was performed and a «cut-off point» of the level of neonatal TSH was established as an indicator of iodine deficiency. The median urinary iodine concentration in the population of pregnant women in Tyumen was 159.05 μg/l, the incidence of goiter was 0.38%, the incidence of neonatal hyperthyroidism above 5 mIU/l was 2.88%, which characterizes adequate iodine intake in the pregnant population women. The frequency of neonatal TSH above 5 mIU/l in newborns from women from the main group was 1.47%, and in the comparison group - 9.3% (p = 0.076). ROC analysis revealed a threshold value of neonatal TSH of 2.77 mIU/l at the cut-off point, which corresponded to the highest value of the Youden index. Urinary iodine concentrations greater than 150 μg/l were predicted for nTSH values below this value. Analysis of databases of neonatal screening for congenital hypothyroidism makes it possible to effectively, quickly and at minimal cost annually assess the iodine status in the population. The established «cut-off point» of neonatal TSH in the model of healthy pregnant women with adequate iodine intake in our work is 2.77 mIU/l, the absence of statistically significant differences in the incidence of neonatal hyperthyroidism above 5 mIU/l from women with different iodine status during pregnancy indicate the need to revise the existing threshold of 5 mIU/l and may be an incentive to conduct large-scale studies in regions with different iodine supply.

Novel TSHB variant (c.217A>C) causing severe central hypothyroidism and pituitary hyperplasia.

SummaryBiallelic pathological variants in the thyroid stimulating hormone (TSH) subunit β gene (TSHB) result in isolated TSH deficiency and secondary hypothyroidism, a rare form of central congenital hypothyroidism (CCH), with an estimated incidence of 1 in 65 000 births. It is characterised by low levels of free thyroxine and inappropriately low serum TSH and may therefore be missed on routine neonatal screening for hypothyroidism, which relies on elevated TSH. We describe a patient with CCH who developed recurrence of pituitary hyperplasia and symptomatic hypothyroidism due to poor compliance with thyroxine replacement. She was diagnosed with CCH as a neonate and had previously required trans-sphenoidal hypophysectomy surgery for pituitary hyperplasia associated with threatened chiasmal compression at 17 years of age due to variable adherence to thyroxine replacement. Genetic testing of TSHB identified compound heterozygosity with novel variant c.217A>C, p.(Thr73Pro), and a previously reported variant c.373delT, p.(Cys125Valfs*10). Continued variable adherence to treatment as an adult resulted in recurrence of significant pituitary hyperplasia, which subsequently resolved with improved compliance without the need for additional medications or repeat surgery. This case describes a novel TSHB variant associated with CCH and demonstrates the importance of consistent compliance with thyroxine replacement to treat hypothyroidism and prevent pituitary hyperplasia in central hypothyroidism.Learning pointsPathogenic variants in the TSH subunit β gene (TSHB) are rare causes of central congenital hypothyroidism (CCH).c.217A>C, p.(Thr73Pro), is a novel TSHB variant, presented in association with CCH in this case report.Thyroxine replacement is critical to prevent clinical hypothyroidism and pituitary hyperplasia.Pituitary hyperplasia can recur post-surgery if adherence to thyroxine replacement is not maintained.Pituitary hyperplasia can dramatically reverse if compliance with thyroxine replacement is improved to maintain free thyroxine (FT4) levels in the middle-to-upper normal range, without the need for additional medications or surgeries.

Benefits of rescreening newborns of mothers affected by autoimmune hypothyroidism.

IntroductionInfants of mothers with autoimmune hypothyroidism (AH) are at risk of developing late-onset hypothyroidism, often escaping at newborn screening. This condition might be caused both by the action of maternal antibodies and/or by maternal treatment.ObjectivesThe aim of this study is to evaluate the prevalence of AH in the mothers of children born in Veneto region, Italy, and to define what is the most appropriate management for these newborns.MethodsNewborns of six different hospitals with a mother suffering from AH and with negative neonatal screening for congenital hypothyroidism (CH) were included in the study. Between 15 and 20 days of life, we collected a serum sample for the evaluation of thyroid function (thyroid-stimulating hormone (TSH), free thyroxine (FT4), free triiodothyronine (FT3)) and anti-thyroid antibodies. On the same occasion, a capillary blood sampling was performed for a second screening test.ResultsMaternal AH has a prevalence of 3.5%. A total of 291 newborns were enrolled from November 2019 to May 2021. Whereas the 11.4% of infants had a slight elevated serum TSH (>6 mU/L) and required a follow-up, only 2 children presented an elevated TSH level at the second screening test. One of these, with the gland in situ, showed persistently elevated serum TSH levels and required treatment with levothyroxine.ConclusionsMaternal AH rarely caused neonatal thyroid dysfunction. We suggest to reassess newborns from mothers with AH 15 days after birth by means of a second neonatal screening test. This procedure avoids false negatives due to maternal thyroid status, is less invasive and cheaper than the serum TSH evaluation, and prevents a long follow-up.

Assessment of Underuse and Overuse of Screening Tests for Co-occurring Conditions Among Children With Obesity

The American Academy of Pediatrics (AAP) recommends laboratory screening for diabetes, dyslipidemia, and liver disease every 2 years among children aged 10 years and older with obesity. Routine screening for hypothyroidism or hyperinsulinemia is not recommended. National data on rates of adherence to AAP-recommended screening and rates of potentially unnecessary endocrine testing are unavailable. To assess rates of AAP-adherent screening and potentially unnecessary endocrine testing among privately and publicly insured children diagnosed with obesity at well-child visits. This cross-sectional study used data from the 2018-2019 IBM MarketScan Commercial Database (which contains claims from privately insured patients across the US) and the 2018-2019 IBM MarketScan Multi-State Medicaid Database (which contains claims from Medicaid patients in multiple states). A total of 156 773 children aged 10 to 18 years with obesity diagnosis codes at a well-child visit from December 1, 2018, through November 30, 2019, were included. Analysis was performed from May 1 to October 31, 2021. Primary outcomes were the proportion of children who received AAP-adherent screening during the 729 days before to 30 days after a well-child visit and the proportion of children who received 1 or more potentially unnecessary thyroid or insulin tests during the same period. Proportions of children by payer type were compared using logistic regression models adjusted for age and sex. To assess screening that was potentially ordered by primary care clinicians, the proportion of children without AAP-adherent screening before visits who received this screening within 30 days was calculated. Of 156 773 children, the mean (SD) age was 13.5 years (2.5) years; 83 305 (53.1%) were male, and 97 595 (62.3%) were publicly insured. Among publicly insured children, 13 167 (13.5%) were Hispanic or Latino, 34 792 (35.6%) were non-Hispanic Black, 42 029 (43.1%) were non-Hispanic White, 3850 (3.9%) were of other race and/or ethnicity (specific races and ethnicities were not available in the database), and 3757 (3.8%) were of unknown race and ethnicity. Race and ethnicity were not available for privately insured children because these data are not reported in the commercial claims database. During the 729 days before to 30 days after well-child visits, 42 849 patients (27.3%) received AAP-adherent screening, including 13 939 (23.6%) of 59 178 privately insured children and 28 910 (29.6%) of 97 595 publicly insured children (average marginal effect for public insurance: 6.8 [95% CI, 6.3-7.2] percentage points). In addition, 46 592 children (29.7%) received potentially unnecessary thyroid or insulin tests, including 12 834 (21.7%) of 59 178 privately insured children and 23 198 (23.8%) of 97 595 publicly insured children (average marginal effect for public insurance: 2.4 [95% CI, 2.0-2.8] percentage points). Among 129 104 children who did not receive AAP-adherent screening before visits, 15 090 (11.7%) received this screening within 30 days. In this cross-sectional study, similar proportions of children diagnosed with obesity at well-child visits received recommended and nonrecommended screening tests for obesity-related co-occurring conditions, suggesting that specific actionable guidelines and interventions are needed to prevent overuse and underuse of screening tests among children with obesity.

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.

Is TSH a Reliable Indicator of Thyroid Hormone Status in Pregnancy?

Thyroid screening is recommended during pregnancy with serum thyrotropin (TSH) as the primary test. However, since human chorionic gonadotropin, the serum hallmark of pregnancy, has TSH-like effects, the adequacy of TSH as a screening tool in this constellation requires further study. This study aimed to evaluate the relationship between TSH and thyroid hormones during pregnancy in order to determine if TSH is an adequate screening tool. This was a retrospective study utilizing the Clalit Health Service, Jerusalem district database between 2006-2017 in which we analyzed TSH, FT4 and FT3 measurements from 32430 pregnancies resulting in live birth. We grouped FT4 and FT3 levels by trimester and by the following TSH levels: (1) below 0.1/0.2/0.3 mIU/l, (2) 0.1-2.5/0.2-3.0/0.3-3.0 mIU/l, (3) 2.6-4.0/3.1-4.0 mIU/l, (4) 4.1-10.0 mIU/l and (5) above 10.0 mIU/l. In the first trimester, the most important for fetal brain development, FT3 was below normal, defined as below the 2.5th percentile for the population, in only 15.3% of tests with TSH over 10 mIU/l. FT4 was below normal in only 12.8% of such tests. Similar findings were noted for the second and third trimesters. As expected, there were far less abnormal tests when lower TSH cutoff levels were tested. In conclusion, TSH levels beyond the range accepted as normal do not, in most cases, reflect abnormal thyroid hormone levels during pregnancy. TSH is not a good screen for overt hypothyroidism in pregnancy. This may be due, at least in the first trimester, to thyrotropic effects of HCG.

Primary Congenital Hypothyroidism in Children Below 3 Years Old - Etiology and Treatment With Overtreatment and Undertreatment Risks, a 5-Year Single Centre Experience.

Worldwide neonatal screening for congenital hypothyroidism (CH) is a gold standard of active surveillance in newborns. Prompt diagnosis, subsequent timely treatment implementation, and proper dosage of levothyroxine (L-T4) are crucial for normal growth and development, especially of the central nervous system. However, overtreatment may have a potential negative impact on further neurodevelopment. We retrospectively analysed data of 99 newborns with CH diagnosis, referred to the Endocrinology Outpatient Clinic of the Institute of Mother and Child in Warsaw, Poland from the CH screening program from 2017 to 2021. We evaluated the diagnostic process and treatment up to the age of 3 years. We compared groups of children from the first and the second screening groups (FSG, SSG) in the neonatal screening with an evaluation of ultrasound examination (thyroid dysgenesis vs. gland in situ, GIS). The overtreatment and undertreatment risks were assessed and an analysis of the new TSH thresholds was performed. Treatment was implemented at a median of 9 days of life (3 – 27); 8 days (3 – 17) in FSG and 19 (6 – 27) in SSG. The dose of L-T4 differed between FSG and SSG at all three analysed time points (start of the therapy, 12 months, and 3 years) with significantly higher doses in FSG. The same was observed for the patients with thyroid dysgenesis vs. GIS. Screening TSH level was ≥ 28mIU/l in 91.7% of patients with thyroid dysgenesis in comparison to 74.0% of patients with GIS (p= 0.038). The optimally treated group (fT4 in the upper half of the reference range, according to the guidelines) was up to 58.0% of the children during the follow-up. The risk for overtreatment was present in 1/5 of the study group after 12 months and 1/4 after 3 years of L-T4 therapy. Analysis of new TSH thresholds showed an increased prevalence of mild hypothyroidism, GIS, and either euthyroid state or overtreatment while treating with lower L-T4 doses in comparison to the rest of the cohort. The study confirmed the general efficacy of the CH diagnostic pathway and the timely implemented L-T4 therapy. The suspected overtreatment after the first 12 months of L-T4 therapy requires consideration of the earlier diagnosis re-evaluation.

Screening of Subclinical Hypothyroidism in Antenatal Women and its Impact on Pregnancy Outcomes

Objectives: To screen subclinical hypothyroid cases in antenatal checkups and to assess the impact of this condition on the fetomaternal outcome.&#x0D; Study Design: Prospective cohort study.&#x0D; Place and Duration of Study: Department of Gynecology and Obstetrics, Pakistan Naval Ship Shifa Hospital Karachi Pakistan, from Jun 2019 to May 2020.&#x0D; Methodology: During the study period, all singleton pregnant women with no comorbid, having booking visits during the first trimester of pregnancy were included. Three thousand four hundred fifty obstetric patients fulfilled the inclusion criteria. Their serum TSH and free T4 and T3 were sent along with routine antenatal investigations. Pregnancy specific first-trimester normal reference values of TSH (0.03-2.3µU/ml) and free T4 (0.8-1.8ng/dl) were used to classify pregnant women into euthyroid (controls) and overt and subclinical hypothyroid (cases). Comparison of antenatal complications (gestational diabetes, gesta tional hypertension, pre-eclampsia, and preterm labour), mode of delivery (vaginal delivery, cesarean section) and perinatal outcome (intrauterine growth restriction, intrauterine fetal death, low APGAR score at 5 min) was made among both the groups.Results: Hypothyroid women had significantly increased risk of gestational hypertension (RR= 4.795% CI=2.902 to 7.773, p&lt;0.0001), preeclampsia (RR=4.07, 95%CI=2.315 to 7.197, p&lt;0.0001), preterm delivery (RR= 4.1, 95% CI=2.128 to 7.89, p&lt;0.0001), cesarean section rate (RR=2.3611, 95% CI=1.7106 to 3.2591, p&lt;0.0001) and risk of IUGR (RR=8.000, 95% CI= 1.869 to 34.227, p=0.005) as compared to euthyroid women.Conclusion: Subclinical hypothyroidism is associated with gestational hypertension, pre-eclampsia, intrauterine growth restriction, preterm delivery and increased cesarean section rate.

Effect of Maternal Subclinical Hypothyroidism on Congenital Hypothyroidism Screening Results: A Retrospective Cohort Study.

This study aimed to evaluate the results of congenital hypothyroidism screening (CHS) in neonates born to women with subclinical hypothyroidism (SHT) during pregnancy and to identify maternal and neonatal characteristics associated with recall rate in CHS. This retrospective cohort study included nonrefugee pregnant women and newborn pairs who underwent thyroid function tests during prenatal follow-up between 2014 and 2017 and had neonatal CHS records. The women were evaluated overall and divided into euthyroidism (ET) and SHT groups according to their thyroid function tests. The groups were compared in terms of CHS results. Neonates with thyroid-stimulating hormone (TSH) levels <5.5 mIU/L were considered "normal," while those with values ≥5.5 mIU/L were "recall." The antenatal thyroid function data of a total of 22,383 pregnant women were analyzed. Of these, 71.6% were ET and 16.3% were diagnosed as SHT. Overall, the recall rate accounted for 5.34% of all CHS results and the recall rate was higher in the SHT group (7.10%) compared with the ET group (5.54%; p = 0.001). Being low birth weight (LBW) or large for gestation age (LGA), maternal TSH above the 97.5th percentile, and cesarean delivery increased the risk of recall in CHS (p ˂ 0.05). The recall rate was higher among the neonates of mothers with SHT. Being LBW or LGA, maternal TSH above the 97.5th percentile and cesarean delivery increased the risk of recall in CHS. · SHT is the most common form of hypothyroidism in pregnancy.. · TSH elevation is higher among the neonates of mothers with SHT.. · Being LBW or LGA, and cesarean delivery also increase the risk of TSH elevation in infants..

Congenital Hypothyroidism among Infants Undergoing Thyroid Function Test in a Tertiary Care Centre: A Descriptive Cross-sectional Study.

Congenital hypothyroidism is the most preventable and treatable cause of mental retardation in newborns and infants. Screening for congenital hypothyroidism in newborns and infants is not a routine practice in our part of the world. This study aimed to find out the prevalence of congenital hypothyroidism among infants undergoing thyroid function test in a tertiary care centre. A descriptive cross-sectional study was done in the Department of Biochemistry, from laboratory records starting 14th April, 2013 to 13th April, 2020 after obtaining ethical clearance from the Institutional Review Committee (Reference number: 1502/019). Data of infants whose thyroid function tests were performed were obtained using convenience sampling. Thyroid-stimulating hormone was categorised per the European Society of Paediatric Endocrinology guidelines. Data were entered and analysed using Microsoft Excel 2011 and the Statistical Package for the Social Sciences version 11.5. Point estimate at a 95% Confidence Interval was calculated along with frequency and percentages for binary data. Among 1243 infants, 56 (4.50%) (3.35-5.65 at 95% Confidence Interval) infants were diagnosed with congenital hypothyroidism. The prevalence of congenital hypothyroidism was higher than other studies done in similar settings. An unexpected finding of treatment-induced hyperthyroidism was observed, indicating a lack of regular and timely follow-up of infants diagnosed with congenital hypothyroidism. congenital hypothyroidism; Nepal; newborn screening; prevalence.

Current Status of Newborn Screening for the early Diagnosis of Congenital Hypothyroidism in Bangladesh

Background: Newborn screening programs signify early and presymptomatic detection of treatable disorders which authorize commencement of prompt medication to alleviate notable fatality. Newborn screening (NBS) for congenital hypothyroidism (CH) has been a successful public health initiative in preventive medicine over the last few decades. Previous pilot (1999-2006) and phase 1 (2006-2011) NBS program in Bangladesh reported an increased incidence compared to global data which urged to initiate a second phase NBS program for the detection of CH. Materials &amp; Methods: Neonates’ blood was collected from the umbilical cord or by heel prick and drawn on the Guthrie filter paper card. Thyroid-stimulating hormone (TSH) was measured from this filter paper by Immunoradiometric assay (IRMA) or Dissociation Enhanced Lanthanide Fluorescence Immunoassay (DELFIA) method. Results: 123 out of 2,61,550 neonates have already been diagnosed with congenital hypothyroidism from September 2018 to August 2020, which represents an incidence of 1:2126. Conclusion: Ongoing phase-2 project data is already showing some optimistic outcomes. Hence, a time-worthy sustainable policy should be implemented to mark this program as an effective one. Bangladesh J. Nuclear Med. 25(1): 15-21, 2022

Twenty years of newborn screening for congenital adrenal hyperplasia and congenital primary hypothyroidism - experiences from the DGKED/AQUAPE study group for quality improvement in Germany.

Congenital primary hypothyroidism (CH) and congenital adrenal hyperplasia (CAH) are targeted by the German and Austrian newborn screening. For both diseases, there are registries for quality improvement, based on standardized observational data from long-term patient follow-up, under the auspices of the DGKED study group. By September 2021, the CH registry HypoDOK includes datasets from 23,348 visits of 1,840 patients, and the CAH registry contains datasets from 36,237 visits of 1,976 patients. Here, we report on the recruitment process, patient characteristics, and research contributions from the registries, and underline that the registries are an important tool to improve patient care and outcomes. Registries for rare conditions should thus be considered as an important public health measure and they should be adequately institutionalized and funded.

Installation of AutoDELFIA: A new addition in Bangladesh for the Screening of Congenital Hypothyroidism in Newborn Babies

Newborn Screening for the diagnosis of Congenital Hypothyroidism (CH) was first started in Bangladesh in 1999 by the Immunoradiometric assay (IRMA). Dissociation enhanced lanthanide fluorescent immunoassay (DELFIA) was started in 1986 due to its superior sensitivity, speed, and non-radioactive methodology. Auto DELFIA 1235 automatic immunoassay system was introduced in the In vitro Division of National Institute of Nuclear Medicine &amp; Allied Sciences (NINMAS) under the ADP Project “Screening of Congenital Hypothyroidism in Newborn Babies (Phase 2)”. It is an automatic system that can minimize the pipetting error. In this experiment, dried blood spots (DBS) were punched into an antibody-coated microtitration well with an automated Panthera Puncher and analyzed by AutoDELFIA. Six different standards of 0.8, 10.3, 24.5, 49.3, 93.2, 239μU/mL were used and the calibration curve was drawn by using these standards. Standard error and Standard deviation were found 12.4 and 30.5. Limit of detection (LOD) and Limit of Quantification (LOQ) of X variables were 0.16 and 0.47. The average of the percent recovery was 96.7. The R2 value of the calibration curve was 0.9985. The accuracy of the standard samples was 96.7 ±10.6. For this assay two Quality Control (QC) of 16.39 μU/mL and 63.09, μU/mL were used. All of the measured values from the calibration curve were close to ±1 standard deviation. All these findings indicate appropriateness of Auto DELFIA System for the CH screening from dried blood spots in the newborn screening laboratory of the In vitro division of NINMAS. Bangladesh J. Nuclear Med. 23(1&amp;2): 15-20, 2020