Is the Incidence of Congenital Hypothyroidism Really Increasing? A 20-Year Retrospective Population-Based Study in Québec

Deladoëy, Johnny; Ruel, Jean; Giguère, Yves; Vliet, Guy Van

doi:10.1210/jc.2011-1073

Cited by 228 publications

(202 citation statements)

References 40 publications

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“…It is reported to have an incidence of 1 in 5,727 and it is more common in females. 1 The majority of these patients are asymptomatic; however, some may have obstructive symptoms. 2,3 Hypothyroidism was present in 62% of patients with lingual thyroid in one series, 4 while hyperthyroidism is rare.…”

Section: Discussionmentioning

confidence: 99%

A Case of a Rare Association Between Right Thyroid Hemiagenesis, Lingual Thyroid, and Papillary Thyroid Cancer

Azmat¹,

Phay²,

Teknos³

et al. 2017

US Endocrinology

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Lingual thyroid and thyroid hemiagenesis are rare thyroid developmental abnormalities. These conditions can be present with other thyroid diseases, whether functional ones involving abnormal thyroid hormone levels, or structural ones such as presence of thyroid nodules, however the association with thyroid cancer and lingual thyroid or thyroid hemiagenesis is rare. In addition to that, when thyroid hemiagenesis is present, it is usually in the left lobe. We describe here a pregnant patient who presented with metastatic cervical nodes from thyroid cancer who was found on imaging to have right thyroid hemiagenesis. After she underwent an initial surgery for thyroid cancer and metastatic nodal disease, she was then later discovered to have a lingual thyroid. In this case we report this extremely rare combination and also discuss the potential implications of this association on the diagnosis and management of these patients particularly initial surgery and imaging studies needed for the thyroid cancer.

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Section: Discussionmentioning

confidence: 99%

A Case of a Rare Association Between Right Thyroid Hemiagenesis, Lingual Thyroid, and Papillary Thyroid Cancer

Azmat¹,

Phay²,

Teknos³

et al. 2017

US Endocrinology

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“…Two thirds of the cases are due to thyroid dysgenesis (thyroid ectopy, athyreosis and thyroid hypoplasia) with a prevalence of 1 in 4,000 newborn infants, which has remained stable over the last 20 years in our jurisdiction 17 and which is not influenced by seasonal factors 5 . Ten to fifteen percent are due to recessively inherited defects in hormone synthesis resulting in goiter (birth prevalence of 1:30,000), while a growing number of cases, as a consequence of lower TSH cut-offs, are due to mild functional disorders with a normal thyroid gland in situ (15-20%, birth prevalence of 1:20,000 to 1:15,000) 17 .…”

Section: Basicsmentioning

confidence: 89%

“…Permanent primary congenital hypothyroidism is the most common form of congenital hypothyroidism, and is in fact the most common congenital endocrine disorder: estimates of its prevalence depend on the screening methods, algorithms and cut-offs used but average 1 in 2,500 newborn infants [16][17][18] . Two thirds of the cases are due to thyroid dysgenesis (thyroid ectopy, athyreosis and thyroid hypoplasia) with a prevalence of 1 in 4,000 newborn infants, which has remained stable over the last 20 years in our jurisdiction 17 and which is not influenced by seasonal factors 5 .…”

Section: Basicsmentioning

confidence: 99%

Congenital Hypothyroidism due to Thyroid Dysgenesis: From Epidemiology to Molecular Mechanisms

Deladoëy¹

2012

A New Look at Hypothyroidism

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“…Corbetta et al reported a higher rate of newborns with a normally located thyroid gland which represents two-thirds of the overall CH population [7]. In Canada, Deladoey et al found that lowering the cutoff point resulted in identifying more mild CH forms with a normally located thyroid gland [28].…”

Section: Discussionmentioning

confidence: 99%

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

Anastasovska

Kočova²

2017

IJNS

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Lower cutoff levels in screening programs have led to an increase in the proportion of detected cases of transient hypothyroidism, leading to an increase in the overall prevalence of primary congenital hypothyroidism (CH) in several countries. We have performed a 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 h after birth, between 2002 and 2015, using the DELFIA method. A TSH value of 15 mIU/L whole blood 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 prevalence of primary CH increased from 1/2489 before 2010 to 1/1585 thereafter (p = 0.131). However, the prevalence of permanent CH increased only slightly (p = 0.922), while the transient CH prevalence showed an 8-fold increase after lowering the TSH cutoff level (p < 0.001). In cases of permanent CH, we observed a lower prevalence of thyroid dysgenesis (82.7% vs. 66.7%) and a higher prevalence of a normal in situ thyroid gland (17.3% vs. 33.3%), for the period with a lower TSH cutoff value. Our findings support the impact of a lower TSH cutoff on the increasing prevalence of congenital hypothyroidism.

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Is the Incidence of Congenital Hypothyroidism Really Increasing? A 20-Year Retrospective Population-Based Study in Québec

Abstract: Estimating the incidence of CH is influenced by minimal changes in TSH screening cutoffs. Lower cutoffs identify additional cases that have predominantly functional disorders whose impact on intellectual disability, if left untreated, remains to be determined.

Cited by 228 publications

References 40 publications

A Case of a Rare Association Between Right Thyroid Hemiagenesis, Lingual Thyroid, and Papillary Thyroid Cancer

A Case of a Rare Association Between Right Thyroid Hemiagenesis, Lingual Thyroid, and Papillary Thyroid Cancer

Congenital Hypothyroidism due to Thyroid Dysgenesis: From Epidemiology to Molecular Mechanisms

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

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