Congenital hypothyroidism

Wassner, Ari J.; Brown, Rosalind S.

doi:10.1097/med.0000000000000181

Cited by 107 publications

(84 citation statements)

References 38 publications

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“…Further, improved thyroid stimulating hormone (TSH) assay sensitivity and lower cutoffs in the screening program have resulted in an increase in CH diagnoses. Owing to these changes in the newborn screening tests, the detection of mild forms of CH associated with eutopic and normal-shaped thyroid glands have increased progressively6). Current guidelines recommend that all children with CH need a re-evaluation of their thyroid function tests after 3 years of age; a condition where a levothyroxine treatment is no longer required to maintain normal thyroid function is classified as transient CH (TCH)7).…”

Section: Introductionmentioning

confidence: 99%

Predictors of transient congenital hypothyroidism in children with eutopic thyroid gland

Park

Yoon

et al. 2017

Ann Pediatr Endocrinol Metab

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PurposeCongenital hypothyroidism (CH) is the most common cause of preventable mental retardation. Recently, the detection of CH cases with eutopic thyroid gland has increased due to neonatal screening programs. In this study, we aimed to identify and evaluate predictive factors that could distinguish between permanent and transient CH in patients with eutopic thyroid gland.MethodsWe retrospectively reviewed 100 children diagnosed with CH and with eutopic thyroid gland. All subjects were treated with levothyroxine and underwent re-evaluation after 3 years of age.ResultsOf the 100 CH patients, 35 (35.0%) were diagnosed with permanent CH (PCH) and 65 (65.0%) were diagnosed with transient CH (TCH). The initial thyroid stimulating hormone levels were significantly lower in the TCH subjects than in PCH subjects. In addition, the mean doses of levothyroxine (µg/kg/day) at the 1st, 2nd, and 3rd year of treatment were significantly lower in subjects with TCH than in PCH subjects with eutopic thyroid gland. Based on the receiver operating characteristic (ROC) curve, the optimal cutoff dose of levothyroxine at 3 years of 2.76 µg/kg/day could predict TCH, and was associated with 87.3% sensitivity and 67.6% specificity, with an area under the ROC curve of 0.769.ConclusionThe levothyroxine dose requirement during treatment period has a predictive role in differentiating TCH from PCH in CH patients with eutopic thyroid gland.

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Section: Introductionmentioning

confidence: 99%

Predictors of transient congenital hypothyroidism in children with eutopic thyroid gland

Park

Yoon

et al. 2017

Ann Pediatr Endocrinol Metab

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“…The most common pediatric endocrine disorders, with the exception of type 1 diabetes mellitus, include congenital hypothyroidism, Hashimoto’s thyroiditis, isolated growth hormone deficiency (GHD), Graves’ disease, and congenital adrenal hyperplasia (CAH) (1,2,3,4,5). Endocrine disorders commonly require lifelong hormone replacement therapy.…”

Section: Introductionmentioning

confidence: 99%

Development and Validation of a Pediatric Endocrine Knowledge Assessment Questionnaire: Impact of ac Pediatric Endocrine Knowledge Assessment Questionnaire Intervention Study

Gupta

Zidan

Moltz

et al. 2016

Jcrpe

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Objective:While there is general agreement that patient education is essential for compliance, no objective tools exist to assess knowledge in children and parents of children with endocrine disorders. We aimed to design and validate a Pediatric Endocrine Knowledge Assessment Questionnaire (PEKAQ) for congenital hypothyroidism, Hashimoto’s thyroiditis, isolated growth hormone deficiency, Graves’ disease, and congenital adrenal hyperplasia. We evaluated baseline knowledge of children and parents of children with these disorders and assessed impact of educational intervention.Methods:At baseline, 77 children (12-18 years) and 162 parents of children 1-18 years participated in this prospective intervention study. Educational handouts for five targeted disorders were designed. Following one-on-one educational intervention, 55 children and 123 parents participated. Baseline and post-intervention knowledge scores were compared using McNemar’s test.Results:Adequate multi-rater Kappa measure of agreement was achieved for children’s (0.70) and parent’s (0.75) PEKAQs. Flesch Reading Ease Score for both PEKAQs (15 questions each) was 65. Post-intervention, significantly higher proportion of parents and children answered majority of questions correctly (p<0.05). Sixteen percent more parents and 22% more children knew their diagnosis correctly (p<0.05). Significant improvement was noted among all participants regarding reason for treatment, steps to take in a situation of missed dose, exercise and diet with these disorders, and long-term prognosis. Parent’s knowledge score was an independent predictor of child’s score.Conclusions:To our knowledge, this is the first validated PEKAQ that can be used widely in pediatric endocrinology clinics. We noted significant improvement in knowledge of children and parents of children with endocrine disorders.

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“…In humans, thyroid dysgenesis is the leading cause of congenital hypothyroidism (CH), a serious endocrine disorder that, without prompt supplementation with thyroxine, impairs neuronal and skeletal development inevitably leading to dwarfism and irreversible brain dysfunction, or cretinism (Wassner and Brown, 2015). Thyroid malformations comprise a number of distinct phenotypes of different clinical significance .…”

Section: Reviewmentioning

confidence: 99%

“…Indeed, the severe and life-threatening hypothyroid state of mice made athyroid by an overdose of radioactive iodine (I 131 ), which accumulates in and destroys the gland, can be rescued by implanting thyroid follicles generated from mouse embryonic stem cells (ESCs) into the vascularized environment of the kidneys . Nonetheless, the morphogenetic events that lead to the formation of sufficient amounts of functional, hormone-producing tissue are important to consider for understanding how thyroid developmental defects, which are the leading cause of congenital hypothyroidism (CH; Box 1) (reviewed by Wassner and Brown, 2015), may arise. Intriguingly, mouse studies have revealed that thyroid dysgenesis is a polygenic disease with variable penetrance that can present clinically with different phenotypes, even though the inactivating mutations are identical (Amendola et al, 2005).…”

Section: Introductionmentioning

confidence: 99%

Development of the thyroid gland

2017

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Thyroid hormones are crucial for organismal development and homeostasis. In humans, untreated congenital hypothyroidism due to thyroid agenesis inevitably leads to cretinism, which comprises irreversible brain dysfunction and dwarfism. Elucidating how the thyroid gland -the only source of thyroid hormones in the bodydevelops is thus key for understanding and treating thyroid dysgenesis, and for generating thyroid cells in vitro that might be used for cell-based therapies. Here, we review the principal mechanisms involved in thyroid organogenesis and functional differentiation, highlighting how the thyroid forerunner evolved from the endostyle in protochordates to the endocrine gland found in vertebrates. New findings on the specification and fate decisions of thyroid progenitors, and the morphogenesis of precursor cells into hormone-producing follicular units, are also discussed.

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Congenital hypothyroidism

Abstract: Although newborn screening has virtually eradicated mental retardation due to congenital hypothyroidism in parts of the world, new information continues to accumulate and new questions to arise about the diagnosis, physiology, and optimal management of this disorder.

Cited by 107 publications

References 38 publications

Predictors of transient congenital hypothyroidism in children with eutopic thyroid gland

Predictors of transient congenital hypothyroidism in children with eutopic thyroid gland

Development and Validation of a Pediatric Endocrine Knowledge Assessment Questionnaire: Impact of ac Pediatric Endocrine Knowledge Assessment Questionnaire Intervention Study

Development of the thyroid gland

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