Thyroid evaluation of children and adolescents with Williams syndrome in Zhejiang Province
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Wei-Jun Chen
Abstract
Background:
The objective of the study was to describe the prevalence of abnormal thyroid function and volume in children and adolescents with Williams syndrome (WS) in Zhejiang Province, China.
Methods:
Thyroid function, including thyroid-stimulating hormone (TSH), free triiodothyronine (fT3), free thyroxine (fT4), and thyroid antibodies (thyroid peroxidase and thyroglobulin) were measured in 83 patients with WS, aged 0.2–16.5 years. Twenty-three patients were followed for an average of 1.7 years (0.4–4.1), and multiple TSH determinations were considered. Thyroid ultrasonography was performed on 49 patients.
Results:
One patient was diagnosed with overt hypothyroidism, and 23 patients (27%) had subclinical hypothyroidism (SH). Thyroid antibodies were absent in all patients. In five age groups (0–1 years, 1–3 years, 3–6 years, 6–9 years, 9–18 years), the prevalence of patients with subclinical hypothyroidism was 25%, 28.5%, 44.4%, 16.7% and 4.7%, respectively. Through ultrasound examination, 21 patients (42%) were observed to have thyroid hypoplasia (TH), and there were no cases of thyroid haemiagenesis. The incidence rate of TH increased with age, rising from 20% in the youngest group to 66% in the oldest.
Conclusions:
SH and TH is common in children and adolescents with WS. Yearly evaluation of thyroid must be performed in all patients in this population, regardless of the result of the neonatal screening. Age under 6 years and existing thyroid abnormalities are risk factors for developing SH, and a shorter follow-up interval is needed for screening in these individuals, SH is often self-limiting, and clinicians should be alert to overt hypothyroidism.
Acknowledgments
We would like to thank all the patients and their families for their consent and support, as well as the physicians who have contributed with the clinical information of their patients.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: This work was supported by grants from the Science & Technology Bureau of Zhejiang Province (2015C33127).
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organisation(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2017 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
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- Mini Review
- Marine-Lenhart syndrome in two adolescents, including one with thyroid cancer: a case series and review of the literature
- Original Articles
- The role of enterovirus infections in type 1 diabetes in Tunisia
- Serum progranulin levels in relation to insulin resistance in childhood obesity
- Relation between circulating oxidized-LDL and metabolic syndrome in children with obesity: the role of hypertriglyceridemic waist phenotype
- Etiologies of short stature in a pediatric endocrine clinic in Southern Thailand
- Thyroid evaluation of children and adolescents with Williams syndrome in Zhejiang Province
- The use of a radiolucent template to improve bone age X-ray quality (BASIC study)
- How often are clinicians performing genital exams in children with disorders of sex development?
- Efficacy and safety of percutaneous administration of dihydrotestosterone in children of different genetic backgrounds with micropenis
- Higher phthalate concentrations are associated with precocious puberty in normal weight Thai girls
- Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment
- Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in Shaanxi, China
- Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?
- Case Reports
- Diabetic ketoacidosis, hyperuricemia and encephalopathy intractable to regular-dose insulin
- A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita
- High aldosterone and cortisol levels in salt wasting congenital adrenal hyperplasia: a clinical conundrum
- A newborn with combined pituitary hormone deficiency developing shock and sludge
- Acknowledgment
Articles in the same Issue
- Frontmatter
- Mini Review
- Marine-Lenhart syndrome in two adolescents, including one with thyroid cancer: a case series and review of the literature
- Original Articles
- The role of enterovirus infections in type 1 diabetes in Tunisia
- Serum progranulin levels in relation to insulin resistance in childhood obesity
- Relation between circulating oxidized-LDL and metabolic syndrome in children with obesity: the role of hypertriglyceridemic waist phenotype
- Etiologies of short stature in a pediatric endocrine clinic in Southern Thailand
- Thyroid evaluation of children and adolescents with Williams syndrome in Zhejiang Province
- The use of a radiolucent template to improve bone age X-ray quality (BASIC study)
- How often are clinicians performing genital exams in children with disorders of sex development?
- Efficacy and safety of percutaneous administration of dihydrotestosterone in children of different genetic backgrounds with micropenis
- Higher phthalate concentrations are associated with precocious puberty in normal weight Thai girls
- Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment
- Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in Shaanxi, China
- Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?
- Case Reports
- Diabetic ketoacidosis, hyperuricemia and encephalopathy intractable to regular-dose insulin
- A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita
- High aldosterone and cortisol levels in salt wasting congenital adrenal hyperplasia: a clinical conundrum
- A newborn with combined pituitary hormone deficiency developing shock and sludge
- Acknowledgment
