The impact of receiving a diagnosis of congenital hypothyroidism on families

AbstractThyroid dyshormonogenesis continues to be a significant cause of congenital hypothyroidism. Over time, forms of thyroid dyshormonogenesis can result in goiter, which can lead to difficult management decisions as the pathologic changes can both mimic or lead to thyroid cancer.Herein we describe the cases of two brothers diagnosed with congenital hypothyroidism, with initial findings consistent with thyroid dyshormonogenesis. One brother eventually developed multinodular goiter with complex pathology on biopsy, resulting in thyroidectomy.Whole exome sequencing revealed the brothers carry a novel frameshift mutation in thyroperoxidase; the mutation, while not previously described, was likely both deleterious and pathogenic.These cases highlight the complex pathology that can occur within thyroid dyshormonogenesis, with similar appearance to possible thyroid cancer, leading to complex management decisions. They also highlight the role that a genetic diagnosis can play in interpreting the impact of dyshormonogenesis on nodular thyroid development, and the need for long-term follow-up in these patients.

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The Impact of Transient Hypothyroidism on the Increasing Rate of Congenital Hypothyroidism in the United States

PEDIATRICS ◽

10.1542/peds.2009-1975f ◽

2010 ◽

Vol 125 (Supplement 2) ◽

pp. S54-S63 ◽

Cited By ~ 45

Author(s):

John S. Parks ◽

Michelle Lin ◽

Scott D. Grosse ◽

Cynthia F. Hinton ◽

Margaret Drummond-Borg ◽

...

Keyword(s):

United States ◽

Congenital Hypothyroidism ◽

The United States ◽

Transient Hypothyroidism ◽

The Impact

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Consequences of the Use of Low Blood-spot Thyroid-stimulating Hormone Cut-offs for the Neonatal Screening of Congenital Hypothyroidism

European Endocrinology ◽

10.17925/ee.2009.05.00.64 ◽

2009 ◽

Vol 05 (0) ◽

pp. 64

Author(s):

Luca Persani ◽

Davide Calebiro ◽

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Keyword(s):

Congenital Hypothyroidism ◽

Neonatal Screening ◽

Thyroid Stimulating Hormone ◽

Italian Population ◽

Neonatal Hypothyroidism ◽

Lombardy Region ◽

Increased Risk ◽

The Impact ◽

Blood Spot ◽

Stimulating Hormone

The consequences of using low blood-spot thyroid-stimulating hormone (b-TSH) cut-off values for newborn screening of congenital hypothyroidism (CH) are largely unknown. Therefore, the impact on CH epidemiology and classification generated by the introduction in our Italian region of a low b-TSH cut-off during 1999–2005 was retrospectively examined. This work was recently performed in collaboration with the Laboratory for Neonatal Screening and the Principal Follow-up Centre of the Lombardy region. The incidence of CH in this Italian population was 1:1,446 live births, with a predominance of functional over morphogenetic defects. The use of low b-TSH cut-offs allowed the detection of an unsuspected number of children with neonatal hypothyroidism, evolving to mild permanent thyroid dysfunction later in life. Premature birth was associated with a three- to five-fold increased risk of CH with glandin situ.

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Impact of Lower Screening TSH Cutoff Level on the Increasing Incidence of Congenital Hypothyroidism

10.20944/preprints201702.0025.v1 ◽

2017 ◽

Author(s):

Violeta Anastasovska ◽

Mirjana Kocova

Keyword(s):

Congenital Hypothyroidism ◽

Thyroid Stimulating Hormone ◽

Retrospective Evaluation ◽

Cutoff Value ◽

Screening Programs ◽

The Impact ◽

Lower Cutoff ◽

Cutoff Levels ◽

Blood Spot

Lower cutoff levels in screening programs have led to an increase in the proportion of detected cases with transient hypothyroidism, leading to increase of the overall incidence of primary congenital hypothyroidism (CH) in several countries. We have performed retrospective evaluation on the data from 251,008 (96.72%) neonates screened for thyroid-stimulating hormone (TSH) level in dried blood spot specimens taken 48 hours after birth, between 2002 and 2015, using DELFIA method. A TSH value of 15 mIU/L was used as the cutoff point until 2010 and 10 mIU/L thereafter. Primary CH was detected in 127 newborns (1/1976) of which 81.1% had permanent and 18.9% had transient CH. The incidence of primary CH was increased from 1/2489 until to 2010 to 1/1585 thereafter (p=0.131). However, the incidence of permanent CH was slightly increased (p=0.922), while the transient CH incidence had 8-fold increasing after lowering the TSH cutoff level (p<0.001). In cases with permanent CH, we observed lower frequency for thyroid dysgenesis (82.7 vs. 66.7%) and higher frequency for normal in-situ thyroid gland (17.3 vs. 33.3%), for the period with reduced TSH cutoff value. Our findings support the impact of lower TSH cutoff on the increasing incidence of congenital hypothyroidism.

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ENDOCRINOLOGY AND ADOLESCENCE: Congenital hypothyroidism: a clinical update of long-term outcome in young adults

Acta Endocrinologica ◽

10.1530/eje-14-0777 ◽

2015 ◽

Vol 172 (2) ◽

pp. R67-R77 ◽

Cited By ~ 39

Author(s):

Juliane Léger

Keyword(s):

Congenital Hypothyroidism ◽

Current Knowledge ◽

Early Adulthood ◽

Accurate Information ◽

Medical Conditions ◽

Educational Strategies ◽

Term Outcome ◽

Long Term Outcome ◽

The Impact

Congenital hypothyroidism (CH) is the most common congenital endocrine disorder. The early treatment of CH patients has successfully improved the prognosis and management of this disorder. Optimal treatment and management throughout the patient's life, beginning in the neonatal period, are required to ensure long-term health. Affected patients should be offered assessments of associated medical conditions and provided with accurate information about their condition throughout their lives, but particularly during the transition from pediatric to adult services. This review provides a summary of current knowledge about the long-term outcomes of these patients and appropriate management into early adulthood. We carried out a systematic search of the Medline database to identify relevant articles. Despite major improvements in prognosis, the impact of CH is clearly not uniform, and management should take into account a broader range of relevant indicators, including CH severity, associated comorbid conditions and the adequacy of treatment during childhood and adulthood. The early diagnosis and management of associated medical conditions, and better educational strategies to improve compliance with treatment, should improve the long-term prognosis. Further studies are required to explore changes with aging.

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Umbilical cord blood TSH level: correlation with congenital hypothyroidism

International Journal of Contemporary Pediatrics ◽

10.18203/2349-3291.ijcp20212473 ◽

2021 ◽

Vol 8 (7) ◽

pp. 1204

Author(s):

Mahesh Reddy J. ◽

Seshagiri G. ◽

Padmaja K. ◽

Archana C. H. ◽

Ramya C.

Keyword(s):

Cord Blood ◽

Congenital Hypothyroidism ◽

Gestational Age ◽

Apgar Score ◽

Mode Of Delivery ◽

Stress Factors ◽

P Values ◽

Blood Samples ◽

The Impact ◽

Tsh Levels

Background: Congenital hypothyroidism is the most common preventable cause of mental retardation. Screening methods include measuring cord blood and venous blood TSH level. The objective of this study was to determine the impact if any of various risk factors affecting these levels.Methods: It was a cross sectional study done at our hospital and 263 cord blood samples were collected and TSH levels measured. The variables included in the study are parity of mother, GDM, mode of delivery, birth weight, gestational age, sex, weight appropriate for gestation, Apgar score.Results: In our study 35 among 263 cord blood samples were found to have CB TSH levels above the cut off value of 20 mIU/l and repeat venous sampling done on fifth day of life showed only one sample had high TSH with low free T4 levels and remaining 34 samples showed TSH levels which were significantly down from the earlier peak. The p value, ROC curve, test of significance and criterion cut off levels were made for each of the variables mentioned above. Among the variables studied, mode of delivery (<0.001), gestational age (p=0.001), low Apgar score (p=0.001) had p values which were statistically significant.Conclusions: Incidence of congenital hypothyroidism in our study is 0.0038%. There was no sexual predilection and the high cord blood TSH levels may be due to perinatal stress factors such as emergency LSCS, low Apgar score and prematurity which had significant positive correlation as evidenced with p values (≤0.001).

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The impact of demographic factors on newborn TSH levels and congenital hypothyroidism screening

Clinical Endocrinology ◽

10.1111/cen.14044 ◽

2019 ◽

Vol 91 (3) ◽

pp. 456-463 ◽

Cited By ~ 2

Author(s):

Natasha L. Heather ◽

José G. B. Derraik ◽

Dianne Webster ◽

Paul L. Hofman

Keyword(s):

Congenital Hypothyroidism ◽

Demographic Factors ◽

The Impact ◽

Tsh Levels

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Effects of PM2.5 and PM10 on congenital hypothyroidism in Qingdao, China, 2014–2017: a quantitative analysis

Therapeutic Advances in Endocrinology and Metabolism ◽

10.1177/2042018819892151 ◽

2019 ◽

Vol 10 ◽

pp. 204201881989215 ◽

Cited By ~ 1

Author(s):

Silin Pan ◽

Wei Ni ◽

Wenjie Li ◽

Guoju Li ◽

Quansheng Xing

Keyword(s):

Congenital Hypothyroidism ◽

Mixed Model ◽

Short Term ◽

Relative Risks ◽

Legal Limits ◽

Different Populations ◽

Pm2.5 And Pm10 ◽

The Impact ◽

Pollution Events ◽

Particulate Matter Pollution

Background: We aimed to quantify the impact of PM2.5 and PM10 pollution on congenital hypothyroidism (CH) in Qingdao in the period 2014–2017. Methods: A generalized additive mixed model (GAMM) with time-series Poisson regression was conducted to quantify the association between PM2.5 and PM10 variables in the month when cases of CH were born or in the two preceding the months (lag0, lag1 and lag2) and monthly morbidity of people with CH across different populations. Results: A total of 480,633 newborns were screened for CH during 2014–2017 in Qingdao, and there were 268 cases of CH diagnosed. The count of days per month for which average concentrations of PM2.5 and PM10 exceed legal limits were positively associated with monthly CH morbidity at lag1 month among all the populations, and the adjusted relative risks (RRs) with exposure per 10 μg/m3 were close among different populations. However, the number of days per month of PM2.5 and PM10 concentrations exceeding limits were negatively associated with CH morbidity. Additionally, the RRs of CH increase with worsening air pollution. Conclusions: Concentrations of PM2.5 and PM10 exceeding the legal limits are significantly associated with CH in Qingdao. Moreover, it suggests that sudden and short-term particulate matter pollution events with high levels of particulates exceeding the legal limits may be related to risk of CH.

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