Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates
-
Asma Deeb
,
Ihab Elkadry
Abstract
Background: Congenital hypothyroidism (CH) is caused by thyroid gland (TG) dysgenesis or inadequate thyroid hormone biosynthesis in a structurally normal gland. Different etiologies are known to be associated with various clinical, biochemical and imaging markers and a subset of cases have an underlying genetic basis. Despite the presence of neonatal screening programs in the UAE, there is a lack of data on the disease etiology in the area. We aim to study the etiology of CH in our center and examine its relationship with the clinical, biochemical, genetic and radiological features.
Methods: Patients with CH who were followed in our center between 2011 and 2014 are enrolled in the study. Data collected included gender, gestational age, history of CH in a first-degree relative, initial thyroid stimulating hormone (TSH) and thyroxine (T4) levels, imaging findings, associated disease/malformation and treatment details. Selected patients with associated systemic disease or familial CH underwent genetic testing.
Results: Sixty-five patients were enrolled. Ten patients underwent genetic study: seven patients with associated congenital disease/malformation, one with a sibling and two with cousins with CH. Forty-nine subjects had technetium99 and/or ultrasound scans. Dyshormonogenesis was diagnosed in two-thirds of the patients. Three patients of 10 tested had likely causative genetic mutations; two homozygous thyroid peroxidase (TPO) and one heterozygous thyroid stimulating hormone receptor (TSHR) missense mutations.
Conclusions: Dyshormonogenesis is the commonest etiology in CH in the studied group. It is expected that genetic mutations are more prevalent in our region due to the nature of the CH etiology and the rate of high consanguinity rate.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(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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©2016 by De Gruyter
Artikel in diesem Heft
- Frontmatter
- Original Articles
- Translation and psychometric properties of the Persian version of self-management of type 1 diabetes for adolescents
- Generic and disease-specific quality of life in adolescents with type 1 diabetes: comparison to age-matched healthy peers
- Relationship between HOMA-IR and serum vitamin D in Chinese children and adolescents
- Low 25-hydroxyvitamin D level is not an independent risk factor for hepatosteatosis in obese children
- Pediatric thyroid nodules: ultrasonographic characteristics and inter-observer variability in prediction of malignancy
- Frequency of thyroid status monitoring in the first year of life and predictors for more frequent monitoring in infants with congenital hypothyroidism
- Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates
- High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism
- Children with severe Osteogenesis imperfecta and short stature present on average with normal IGF-I and IGFBP-3 levels
- Association between physical activity and bone in children with Prader-Willi syndrome
- CNDP1 genotype and renal survival in pediatric nephropathies
- 17-Hydroxyprogesterone responses to human chorionic gonadotropin are not associated with serum anti-Mullerian hormone levels among adolescent girls with polycystic ovary syndrome
- Near-final height in 82 Chinese patients with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency: a single-center study from China
- Case Reports
- Sertoli cell only syndrome with ambiguous genitalia
- Childhood parathyroid adenoma: a rare but important cause of nephrolithiasis
- A unique case of growth hormone and human chorionic gonadotropin treatment in a 45,X male with Y: autosome translocation and literature review
- Propionic acidemia: a Turkish case report of a successful pregnancy, labor and lactation
- Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene
- Central diabetes insipidus as a very late relapse limited to the pituitary stalk in Langerhans cell histiocytosis
Artikel in diesem Heft
- Frontmatter
- Original Articles
- Translation and psychometric properties of the Persian version of self-management of type 1 diabetes for adolescents
- Generic and disease-specific quality of life in adolescents with type 1 diabetes: comparison to age-matched healthy peers
- Relationship between HOMA-IR and serum vitamin D in Chinese children and adolescents
- Low 25-hydroxyvitamin D level is not an independent risk factor for hepatosteatosis in obese children
- Pediatric thyroid nodules: ultrasonographic characteristics and inter-observer variability in prediction of malignancy
- Frequency of thyroid status monitoring in the first year of life and predictors for more frequent monitoring in infants with congenital hypothyroidism
- Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates
- High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism
- Children with severe Osteogenesis imperfecta and short stature present on average with normal IGF-I and IGFBP-3 levels
- Association between physical activity and bone in children with Prader-Willi syndrome
- CNDP1 genotype and renal survival in pediatric nephropathies
- 17-Hydroxyprogesterone responses to human chorionic gonadotropin are not associated with serum anti-Mullerian hormone levels among adolescent girls with polycystic ovary syndrome
- Near-final height in 82 Chinese patients with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency: a single-center study from China
- Case Reports
- Sertoli cell only syndrome with ambiguous genitalia
- Childhood parathyroid adenoma: a rare but important cause of nephrolithiasis
- A unique case of growth hormone and human chorionic gonadotropin treatment in a 45,X male with Y: autosome translocation and literature review
- Propionic acidemia: a Turkish case report of a successful pregnancy, labor and lactation
- Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene
- Central diabetes insipidus as a very late relapse limited to the pituitary stalk in Langerhans cell histiocytosis
