Cause Of Mental Retardation Research Articles

The Analysis Study of Gender and Risk of Congenital Hypothyroidism : A Comprehensive Systematic Review

Background: Congenital hypothyroidism is defined as a deficiency of thyroid hormone at birth and is one of the most common endocrine disorders in newborns. Congenital hypothyroidism, with a prevalence of 1 in 3000-4000 live births, is the most common preventable cause of mental retardation in children. The aim: The aim of this study to show about gender and risk of congenital hypothyroidism. Methods: By the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) 2020, this study was able to show that it met all of the requirements. Result: Eight publications were found to be directly related to our ongoing systematic examination after a rigorous three-level screening approach. Subsequently, a comprehensive analysis of the complete text was conducted, and additional scrutiny was given to these articles. Conclusion: many risk factors are involved in the development of congenital hypothyroidism in children. It should be noted that the irreversible consequences of this disease for children including mental retardation is one of the cases which to control and remove it. Accordingly, awareness of the birth season could help policymakers who plan preventive programs to reduce the false negative results among neonates, especially girls.

Prognostic factors for the development of obstetric and perinatal pathology in pregnant women under conditions of iodine deficiency

According to the World Health Organization (WHO), iodine deficiency is the main cause of mental retardation in children, and at the same time, it significantly affects the pathological course of pregnancy and childbirth. The problem is complicated by the fact that more than 100.000 children with cretinism are born annually in the world. In recent years, there has been a significant increase in endemic thyroid diseases in Ukraine, the main cause of which is insufficient iodine consumption. Iodine deficiency conditions are aggravated by socio‑economic, ecological and radiological factors, while at the same time mass and group iodine prophylaxis is carried out improperly on the state level. Objective. To determine prognostic factors for the development of obstetric and perinatal pathology in pregnant women under conditions of iodine deficiency. Materials and methods. To compile a diagnostic table of prognostic factors of the threat of miscarriage, the analysis has been performed of 185 cases of threatened abortion (111 in the first trimester, 56 in the second, 18 in the third) and 223 control observations (without the threat of miscarriage). A diagnosis was considered as confirmed if it was established using all applicable methods of examination of pregnant women. Results. The risk factors of the occurrence of perinatal pathology include hypothyroxinemia (DC=–2.5) and ioduria in pregnant women less than 100 mg/l (DC=–1.9). In the intranatal period, a negative impact is exerted by the lack of coordination and weakness of labor activity (DC=–8.1). Levels of thyroid‑stimulating hormone (TSH) in umbilical cord blood >10 mIU/ml (DC=–4.6) are the prognostically favorable factors for the postnatal adaptation of the newborn, especially TSH levels >20 mIU/ml (DC=–8.3). Conduction of iodine prophylaxis (DC=7.7) and ioduria in pregnant women 200—400 mg/l (DC=5.1) contribute to the improvement of perinatal outcomes. Conclusions. A retrospective review of the prognostic significance of the diagnostic table in 188 patients with diffuse nontoxic goiter revealed its sensitivity (76%) and specificity (68%). On the basis of the conducted research, we established risk factors for the development of obstetric and perinatal complications, and assessed their informativeness. The developed algorithm is represented by a diagnostic table for the prediction of complications of pregnancy, childbirth and adverse perinatal outcomes in women with endemic thyropathies.

Diagnostic Implication of Skin Tubercles in Choking Case: An Autopsy Case

Tuberous sclerosis is a genetic disorder that affects every organ system, has a diverse presentation and progression, and can be life threatening. The authors encountered a case of a choking death caused by a fragment of rice cake. The deceased was an inmate of a social welfare institution due to mental retardation. The deceased was a 60-year-old male, 170 cm in height, and weighed 74 kg. Autopsy revealed multiple tubercles on the face, undigested food material, including rice cake, in the stomach, cardiomegaly (460 g) with mild coronary atherosclerosis, fatty infiltration into the myocardium, severe pulmonary congestion and edema with froth in the bronchus, and a yellowishbrown mass in each kidney. The brain showed firmness of the cortex in the parietal lobe and blurring of the white-grey matter interface. Histologically, the kidney masses were consistent with angiomyolipoma, and the brain lesion revealed abnormal neurons and astrocytes with a ballooned appearance and glassy cytoplasm, suggestive of tuberous sclerosis. Fatty infiltration and focal interstitial fibrosis were observed in the heart. Toxicology results were negative. The authors determined that the autopsy findings were consistent with tuberous sclerosis and that it may have been the cause of mental retardation, which served as an indirect cause of choking.

White Thyroid Scintigraphy.

White thyroid scintigraphy corresponds to an absence or near-absence of radiotracer fixation in the cervical region. After eliminating technical causes, the main etiologies are iodine overload, thyroiditis, and congenital hypothyroidism. We report the case of a 22-day-old newborn with congenital hypothyroidism. As part of the etiological assessment, a cervical ultrasound was performed and showed a normal echostructured thyroid gland with no detectable lesions or vascular anomalies. On the other hand, a Tc 99m thyroid scintigraphy was also performed and revealed a lack of radiotracer uptake in the thyroid area in favor of a white thyroid scintigraphy. Congenital hypothyroidism is the main cause of mental retardation. Thyroid scintigraphy plays an important role in the etiological diagnosis of congenital hypothyroidism. A white thyroid scan and a thyroid in place on cervical ultrasound point to iodine transporter deficiency caused by sodium/iodide symporter gene mutations.

When bones deceive: Beyond skeletal dysplasia

Congenital hypothyroidism results from a partial or complete loss of thyroid function. It is the most common treatable cause of mental retardation. Thyroid hormone facilitates the growth and development of the skeleton through its direct effects on chondrocyte proliferation and differentiation and its permissive effects on the growth hormone. Due to the congenital hypothyroidism screening programs, congenital hypothyroidism is rare, and hence, other differential diagnoses are often considered in children presenting later in life with short stature and coarse facies such as storage disorders, genetic disorders, and skeletal dysplasia. This article aims to assess and discuss the value of radiology, especially plain radiography and ultrasonography in the diagnosis of congenital hypothyroidism and prevent long-term mental retardation and neurological dysfunction.

The Essential Role of Thyroid Scintigraphy and High Resolution Ultrasound for The Etiological Diagnosis of Congenital Hypothyroidism

Congenital hypothyroidism (CH) is the most common congenital endocrine disorder and is a common, preventable cause of mental retardation and growth failure if thyroid hormone replacement is ensured at the proper time and dose. It is well documented that without L-thyroxine replacement from early life, CH causes irreversible neuro-developmental impairment. The three main causes of congenital hypothyroidism are: a) dysembryogenesis, i.e., thyroid dysgenesis, b) dyshormonogenesis and c) transient hypothyroidism. Thyroid dysgenesis includes agenesis and/or the complete absence of the thyroid gland.The diagnosis of CH through new born screening (NBS) program in Bangladesh has greatly contributed to the start of treatment within an adequate time frame since 1999 but the etiological diagnosis is usually delayed until the age of 3 years. This reported case of a 13 years old teenage girl emphasized the importance to find the etiology of her CH diagnosed on day 10 after her birth. The importance of assessing biochemical status of thyroid along with high resolution neck ultrasound (HRUS) and 99mTc-thyroid scintigraphy could change the entire scenario and ensure proper treatment of CH in a place far away from the capital city. Bangladesh J. Nuclear Med. 25(2): 138-142, 2022

Diagnosis of Congenital Hypothyroidism by Analysis of Medical Records

Congenital hypothyroidism is one of the causes of mental retardation in children that can be prevented if recognized and treated early. Thyroid hormones play a role in the development of the central nervous system. It is known that 95% of CH do not show typical clinical signs and symptoms at birth and the duration of early intervention to prevent mental retardation is short. Therefore, most developed countries have conducted neonatal screening programs for early detection of CH. The purpose of this study was to determine the diagnosis and management of congenital hypoteroid based on medical record analysis. This research method is a cross-sectional descriptive study with a quantitative approach to patient medical records. Data were analyzed in accordance with the standard diagnosis and management of congenital hypoteroid issued by the Pediatric Association in 2017. The clinical practice guidelines explain that congenital hypothyroidism can be transient or permanent and is classified according to the location of the disorder: primary (in the thyroid gland) or secondary (in the pituitary and/or hypothalamus); severity of hypothyroidism: (serum TSH levels > 100 mIU/L are considered severe; and age of onset of hypothyroidism. The most common form is permanent primary CH (high serum TSH levels) due to thyroid dysgenesis. Permanent CH requires lifelong treatment while transient CH does not. The results of the study have met clinical guidelines, namely CH screening in newborns is positive if the TSH level is ≥ 20 mU/L. Infants with positive screening results must be confirmed by re-checking serum TSH and FT4. The diagnosis of CH is made when TSH levels are high and FT4 is low. In non-screened infants, the diagnosis is made through clinical symptoms and serum TSH and FT4 examination.

Physical growth and intellectual function of children with congenital hypothyroidism: An observational study

Introduction: Congenital hypothyroidism (CH) is an important preventable cause of mental retardation. Objectives: To assess growth parameters and the developmental outcome of children with permanent CH on follow up. Method: This was a hospital-based observational study done in the paediatric endocrinology clinic of a tertiary care hospital in South India. The study population included all children with permanent CH aged 5-18 years attending the clinic from March 2017 to March 2018. Weight, height and head circumference of children were measured and the body mass index (BMI) was calculated. Ultrasonography (USG) of the thyroid was done for all patients and structural abnormalities of the thyroid (aplasia, hypoplasia or ectopic gland) were taken as dysgenesis. If USG had normal thyroid it was taken as dyshormonogenesis. Intelligence quotient (IQ) assessment was done by a clinical psychologist. Results: There were 35 children with CH enrolled in the study. Of this, 17 (49%) were diagnosed on or before 6 months of age and 18 (51%) after 6 months of age; 24 (69%) had thyroid dysgenesis and 11 (31%) had dyshormonogenesis; 4 had severe stunting and 5 were obese. Among the 17 children diagnosed on or before 6 months of age, 12 (70.6%) had normal intelligence and 5 (29.4%) had IQ <85 whereas among the 18 children diagnosed after 6 months of age 6 (33%) had normal intelligence and 12 (66%) had IQ <85, which was statistically significant (p=0.028). There were no significant differences between early and late diagnosis groups in other parameters like developmental delay, stunting and BMI. Among 24 children with dysgenesis of thyroid gland, 14 (58%) had IQ <85 whereas among 11 children with dyshormonogenesis, 3 (37.5%) had IQ <85. This was not statistically significant (p=0.08). Conclusions: In this study, a statistically significantly larger proportion of children diagnosed on or before 6 months of age had normal intelligence compared to children diagnosed after 6 months of age. There were no significant differences between early and late diagnosis groups in other parameters like developmental delay, stunting and BMI. Sri Lanka Journal of Child Health, 2023: 52(2): 148-154

BERMAIN “EGO” PSIKOANALITIS DALAM BIMBINGAN DAN KONSELING PADA ANAK TUNA GRAHITA

The aim of this research is to find out how to provide guidance and counseling techniques for mentally retarded children, then find out what the process of educating mentally retarded children is. Children with mental retardation or also known as mentally retarded because of their limited intelligence make it difficult for them to take part in classical educational programs in regular schools, therefore mentally retarded children need special educational services that are tailored to the child's abilities. The method used is a qualitative case study, with data analysis techniques used, namely pattern matching and explanation creation. The results of this research show that children with special needs can be minimized, but in a small way and over a very long period of time. For example, how to communicate, a counselor must be able to provide guidance services for this kind of thing. The causes of mental retardation in children are, firstly, it could be heredity factors, parenting style factors, nutritional factors, social factors, and so on. Because it is possible that when the baby is in the womb he lacks vitamins, this could also be a cause of mental retardation in children. The hope is that with psychoanalytic play therapy, mentally disabled children will receive guidance and learning to increase their IQ. Of course, this kind of thing is done by providing lessons and examples of games repeatedly in play therapy. So by giving examples over and over again, they can easily memorize what their teacher has taught them even though they are slow to digest it.

A Rare Case of Congenital Hypothyroidism

Congenital Hypothyroidism (CH) is a common preventable cause of mental retardation. The incidence of CH is 1 in 2500 to 1 in 3000 newborns. Most common causes are thyroid dysgenesis and dyshormonogenesis. Some disorder like maternal autoantibodies, maternal intake of anti thyroid medication, iodine deficiency or iodine excess can result in transient CH. Common symptoms include decreased activity and increased sleep, feeding difficulty, constipation, and prolonged jaundice. In this case report, A 3 day old baby was admitted to SNCU with chief complain of yellowish discoloration upto abdomen and respiratory distress. On examination, common signs include myxedematous facies, large fontanels, macroglossia, a distended abdomen with umbilical hernia, and hypotonia. Thyroid dysgenesis accounts for 85% of permanent, primary CH, while inborn errors of thyroid hormone biosynthesis (dyshormonogeneses) account for 10-15% of cases. Secondary or central CH may occur with isolated TSH deficiency, but more commonly it is associated with congenital hypopitiutarism. Transient CH most commonly occurs in preterm infants born.

Convulsion in Children with Down syndrome at Benghazi Children Hospital (2020-2021)

Introduction: Down syndrome (DS) (trisomy 21) is the most frequent chromosomal cause of mental retardation, with a frequency rate of about 1 in 700 births. The prevalence of epilepsy in subjects with DS is reported to range from 1% to 13%, higher than in the general population but lower than in patients with mental retardation. Aim: To find the prevalence of convulsion in Down syndrome patients attending pediatric hospital at Benghazi and to find the associated factors related to convulsion in Down syndrome patients. Methodology: cross –sectional study included all Down syndrome patients admitted to pediatric hospital during two years period ( 2020- 2021) , and Patients attending both genetic and neurological clinics during the same years. Results: Total number of cases was 150; History of convulsion was positive in (18)12% of Down syndrome patients. Majority (89%) of patients had generalized tonic clonic, 5.5% had focal convulsion, and 5.5 % had infantile spasm, all patients were in treatment and had good response. Males constitute to 61% of all patients with male to female ratio 1.6:1. Nearly half (50.4%) of male patients their age was 1- 5years, while 43.8% of females was in same age group. Majority of mothers age were > 32years, 88% of all mothers their age 30years or above. All patients with convulsion had no complication during delivery, while 9% of patients without convulsion had complications. More than half (61.5%) of the patients the convulsion started before the age of one year. Results of EEG were abnormal in 25% of patients with convulsion. Conclusion: Normal ECHO was found in 33% of all cases, Atrial septal defect was recorded in 27% of patients with convulsion and 19.5% of patients without convulsion, Ventricular septal defect and Atrial septal defect in 15.4% of patients with convulsion and 10.3% of patients without convulsion, Patent ductus arterious was in 11.5% of patients with convulsion and 3.2%of patients without convulsion. More than .........

Spectrum of Congenital Heart Disease in Children with Down's Syndrome

Background: Down syndrome is the most common chromosomal disorder and most common genetic cause of mental retardation. Congenital heart disease (CHD) is an important cause of morbidity and mortality in children with Down's syndrome. Objective: To determine the frequency and types of congenital heart diseases in children with Down syndrome and to relate it with consanguinity. Material and Methods: This Cross-sectional study was carried out at Bacha Khan Medical Complex / Gajju Khan Medical College, Swabi, from January 2019-December 2020. Children less than 12 year's age with Down syndrome were enrolled in the study. Echocardiography of all these children was done and presence and type of CHD was noted.Results: Our study included 95 children with diagnosis of Down syndrome. The mean age was 56.12±41.89 months. 40% were males. Mother's mean age was 33.04±4.2 years. Mothers having age = 35 years old were 30.5%. Parents having consanguineous marriage were 33.7%. The diagnosis of major congenital heart defect was in 37.9%. Out of 36 CHD patients the type of congenital heart lesion was as follows: 36.11% had AVSD, 25% had ASD; 30.5% had VSD; 5.55% had tetralogy of Fallot and 2.78% had PDA. Children with down syndrome with CHD had older mothers <0.05. Mothers with consanguineous marriages had a greater proportion of CHD children; p<0.05. Conclusion: Approximately 1/3rd Down syndrome children had congenital heart disease. The commonest lesion was AVSD followed by VSD, ASD, tetralogy of Fallot and PDA. Consanguineous marriages are associated with a greater frequency of CHD in Down children.Keywords: Down syndrome, congenital heart disease, Echocardiography.

High-resolution imaging in studies of alcohol effect on prenatal development.

Fetal alcohol syndrome represents the leading known preventable cause of mental retardation. FAS is on the most severe side of fetal alcohol spectrum disorders that stem from the deleterious effects of prenatal alcohol exposure. Affecting as many as 1 to 5 out of 100 children, FASD most often results in brain abnormalities that extend to structure, function, and cerebral hemodynamics. The present review provides an analysis of high-resolution imaging techniques that are used in animals and human subjects to characterize PAE-driven changes in the developing brain. Variants of magnetic resonance imaging such as magnetic resonance microscopy, magnetic resonance spectroscopy, diffusion tensor imaging, along with positron emission tomography, single-photon emission computed tomography, and photoacoustic imaging, are modalities that are used to study the influence of PAE on brain structure and function. This review briefly describes the aforementioned imaging modalities, the main findings that were obtained using each modality, and touches upon the advantages/disadvantages of each imaging approach.

Comparing the Characteristics of Neonates with FalsePositive Congenital Hypothyroidism Screening Results with Affected Neonates

Background: Congenital hypothyroidism is one of the most common preventable causes of mental retardation. The present study aimed to compare the characteristics of neonates with false-positive congenital hypothyroidism screening test results with affected neonates in Kerman. Methods: This cross-sectional study was conducted on neonates called to confirm congenital hypothyroidism from 2016 to 2017. The neonate characteristics (year and season of birth, sex, umbilical hernia, fontanelle conditions, constipation, jaundice, abnormalities, head circumference, height and weight at birth, gestational age, type of delivery, parental consanguinity, history of thyroid disease in the family, childbirth location, history of hospitalization, and place of residence) and maternal characteristics (age, number of deliveries, history of stillbirth, history of illness, and drug use during pregnancy) were extracted from their medical records. The collected data were analyzed with SPSS software (version 20) using the chi-square and independent samples t test. Results: From a total of 985 neonates who had a positive screening test, congenital hypothyroidism was confirmed in only 58 neonates(5.9%), and the other 927 neonates(94.1%) only had a positive screening test. The neonates’ and mothers’ characteristics were not significantly different in the two groups, except for constipation, which had a higher frequency in the neonates with a positive congenital hypothyroidism screening results than in the affected neonates (P=0.004). Conclusion: In this study, the characteristics of neonates who only had a positive hypothyroidism screening test result were not significantly different from those of the affected neonates. It is recommended that further studies be conducted over a longer period.

Inborn errors of metabolism: a specialty at the forefront of precision medicine

Advances in bioanalytical technologies such as high throughput sequencing have paved the way for an exponential increase in the discovery of inborn errors of metabolism (IEM), which now sum up to more than 1800 IEM. These powerful technologies play a decisive role in shortening the diagnostic odyssey of patients affected by rare diseases. Yet, their added value in guiding therapy is still limited. Metabolic medicine remains a growing discipline that is particularly dependent on specialized laboratory analyses and has adopted early on the fundamental concept of a patient-centered care approach. The discovery of phenylketonuria (PKU) as a treatable cause of mental retardation has hence led to the implementation of newborn screening. With this example, we highlight some key concepts in caring for patients affected by IEM.

Effect of perinatal factors on neonatal thyroid stimulating hormone

Background: Congenital Hypothyroidism (CH) is a common cause of mental retardation. Its incidence varies in different parts of the world from 1:4000 to 1:2000. Objective: To study effect of perinatal factors on heel prick blood TSH levels and to find incidence of congenital hypothyroidism. Study Design: Prospective Observational birth cohort study. Method: Heel prick blood samples of total 3151babies, 1673 (53.1%) males and 1478 (46.9%) females was taken on special graded filter paper within 48 hours of life and screened by fluoroimmunometric assay. Babies with TSH value more than 9µU/ml were recalled at 5 to 7 days of life for repeat sample of T3, T4, TSH. Babies with low T4 less than 7 µgm/dl and TSH more than 20 µU/ml were labelled as congenital hypothyroidism. The effect of perinatal factors was analyzed statistically. Result: In our study, thyroid screening in two third of neonates was done at 12 to 24 hours of age. Median (IQR) TSH of 3151 neonates was 3(1.4-5.5) µU/ml. TSH level was significantly low in neonates with sampling at age of >24 hours. Recall rate in our study was 7.6% (238 cases) and 2 neonates were diagnosed as congenital hypothyroidism. Neonates with assisted deliveries showed a higher median (IQR) TSH level 5.3(3-9.1µU/ml) as compared to normal vaginal deliveries and lower segment caesarean section. This was statistically significant (p

Spectrum of Mutations and Clinical Manifestations of Rett Syndrome in Girls from Western Ukraine

Rett syndrome is one of the most common causes of mental retardation in girls. The aim of our work was to study a spectrum of genetic heterogeneity and various clinical manifestations of Rett syndrome in girls Western Ukraine. Materials and methods: there were used clinical, molecular and genetic methods. We observed seven girls with Rett syndrome aged from 6 months to 15 years who were diagnosed and followed-up at the Institute of Hereditary Pathology, National Academy of Medical Sciences of Ukraine, Lviv for three years (2019–2021) and underwent molecular genetic analyses confirmed by next-generation sequencing. Results: In this study, patients with Rett syndrome had individual clinical heterogeneity and age variability due to different mutations. Mental retardation was not observed among siblings in families with Rett syndrome. We identified seven different pathogenic mutations among seven girls, including two deletions and one duplication of the MECP2 gene. Microcephaly was observed in two girls with MECP2 c.880C>T (p.Arg294*) and MECP2 Gain (Entire coding sequence) at birth. The following developmental disabilities were found in five girls: lack of independent sitting, lack of independent gait (regression of development). Among musculoskeletal disorders, there were diagnosed scoliosis, X-shaped deformation of the lower extremities and muscular hypotonia. A two-year-old girl with Rett syndrome, along with other clinical symptoms, had breathing problems - hyperventilation (rapid shallow breathing). Conclusions: in cases with unknown cause of delayed developmental disability and mental retardation the patients should be referred for medical genetic counselling.

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.

Iatrogenic hyperthyroidism in primary congenital hypothyroidism: prevalence and predictive factors.

Primary congenital hypothyroidism (CH) is a preventable cause of mental retardation. Iatrogenic hyperthyroidism has occasionally been reported using the recommended LT4 dosage. Currently, information regarding iatrogenic hyperthyroidism and predictive factors for permanent hypothyroidism (P-CH) among Thai patients is lacking. The aim of this study is to determine the prevalence and factors for predicting iatrogenic hyperthyroidism at one month after LT4 initiation and for predicting P-CH in primary CH infants. This retrospective cohort study involved 87 infants with primary CH. Patients were classified by thyroid status at one month after LT4 initiation. At 3years, patients were reevaluated after LT4 cessation and assigned as P-CH or transient CH (T-CH). Differences between groups were analyzed. One month after LT4 initiation, 35.6% of patients were classified as having iatrogenic hyperthyroidism. An initial LT4 dose of 10.2μg/kg/day (sensitivity 64.5%, specificity 71.4%) was a suitable cutoff value for predicting iatrogenic hyperthyroidism, wherein 55.6 and 21.6% of patients were treated with initial doses of≥10.2 and <10.2μg/kg/day, respectively (p=0.004). Initial LT4 dose was the only predictive factor for thyroid status after initial treatment. At reevaluation, 47.4% of patients were diagnosed with P-CH. LT4 dosage at 3years of age was significantly higher in patients with P-CH (3.3 vs. 2.85μg/kg/day, p=0.02) and the only relevant factor for predicting P-CH. Iatrogenic hyperthyroidism is common among infants with primary CH when treated with the recommended LT4 dosage. LT4 dose was the only factor for predicting iatrogenic hyperthyroidism after LT4 initiation and the diagnosis of P-CH.

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.