A retrospective analysis of congenital anomalies in congenital hypothyroidism
-
Fatima Ali Mazahir
and
Manal Mustafa Khadora
Abstract
Objectives
We evaluated the spectrum of diseases accompanying congenital hypothyroidism (CH) in the United Arab Emirates and compared them with internationally studied patterns.
Methods
The presented retrospective cross-sectional study took place in two government tertiary care centres. In total, 204 patients with a confirmed diagnosis of CH and a minimum period of follow-up of 1 year were included. Patients with Down syndrome, infants born at <35 weeks of gestation, and babies with TORCH (Toxoplasma gondii, Other viruses [HIV, measles, etc.], Rubella, Cytomegalovirus, and Herpes simplex) infections were subsequently excluded from the study.
Results
Of the subjects with CH, 39% had associated extrathyroidal anomalies (ETAs); among these, 25% had a single anomaly. A significant proportion of Arab males were affected by CH as compared to other ethnic groups. Dyshormonogenesis was the commonest aetiological cause (55%) of CH. Males with an ectopic lingual thyroid gland had significant ETAs as compared to females of the same cohort. The most common ETAs were congenital heart disease (16%), followed by urogenital tract anomalies (14%).
Conclusions
Detection of a high rate and variability of ETAs associated with CH necessitates the formulation of a structured screening programme including appropriate clinical, laboratory, and imaging tools to detect ETAs at an earlier stage.
Acknowledgements
The authors thank the staff in the Paediatric Endocrinology Department, Dubai Hospital, Dubai, United Arab Emirates.
Research funding: None declared.
Author contributions: The main author of the manuscript is Dr. Fatima Ali Mazahir, who has been involved in the concept, design, data collection, analysis and report writing, whereas the co-author is Dr. Manal Mustafa Khadora, who has been involved as the supervisor of the entire study and in reviewing of the manuscript. Both authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
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.
Informed consent: Informed consent was not mandated by the approving ethical committee as it is a retrospective study.
Ethical statement: This study was approved by the Dubai Scientific Research Ethics Committee; reference number DSREC/RRP/2016/19.
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© 2020 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Original Articles
- Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene
- Reference intervals for thyroid-stimulating hormone (TSH) and free thyroxine (FT4) in infants’ day 14–30 of life and a comparison with other studies
- Importance of thyroid-stimulating hormone levels in liver disease
- Assessment of thyroid gland vascularity with superb microvascular imaging in healthy children and its relationship with potential factors
- A retrospective analysis of congenital anomalies in congenital hypothyroidism
- Impact of parental origin of X-chromosome on clinical and biochemical profile in Turner syndrome
- Readiness for transition to adult care in adolescents and young adults with Turner syndrome
- A new type of pubertal height reference based on growth aligned for onset of pubertal growth
- Role of urinary NGAL and KIM-1 as biomarkers of early kidney injury in obese prepubertal children
- Self-assessed puberty is reliable in a low-income setting in rural Pakistan
- Timing and regimen of puberty induction in children with hypogonadism: a survey on the practice in Arab countries
- How useful are anthropometric measurements as predictive markers for elevated blood pressure in adolescents in different gender?
- Association between handgrip strength and cardiovascular risk factors among Korean adolescents
- Case Reports
- A novel GNAS mutation inherited from probable maternal mosaicism causes two siblings with pseudohypoparathyroidism type 1A
- Two intronic variants of CYP11B1 and CYP17A1 disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH)
- Case report: a 10-year-old girl with primary hypoparathyroidism and systemic lupus erythematosus
- Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives
- Severe diabetic ketoacidosis and coronavirus disease 2019 (COVID-19) infection in a teenage patient with newly diagnosed diabetes
Articles in the same Issue
- Frontmatter
- Original Articles
- Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene
- Reference intervals for thyroid-stimulating hormone (TSH) and free thyroxine (FT4) in infants’ day 14–30 of life and a comparison with other studies
- Importance of thyroid-stimulating hormone levels in liver disease
- Assessment of thyroid gland vascularity with superb microvascular imaging in healthy children and its relationship with potential factors
- A retrospective analysis of congenital anomalies in congenital hypothyroidism
- Impact of parental origin of X-chromosome on clinical and biochemical profile in Turner syndrome
- Readiness for transition to adult care in adolescents and young adults with Turner syndrome
- A new type of pubertal height reference based on growth aligned for onset of pubertal growth
- Role of urinary NGAL and KIM-1 as biomarkers of early kidney injury in obese prepubertal children
- Self-assessed puberty is reliable in a low-income setting in rural Pakistan
- Timing and regimen of puberty induction in children with hypogonadism: a survey on the practice in Arab countries
- How useful are anthropometric measurements as predictive markers for elevated blood pressure in adolescents in different gender?
- Association between handgrip strength and cardiovascular risk factors among Korean adolescents
- Case Reports
- A novel GNAS mutation inherited from probable maternal mosaicism causes two siblings with pseudohypoparathyroidism type 1A
- Two intronic variants of CYP11B1 and CYP17A1 disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH)
- Case report: a 10-year-old girl with primary hypoparathyroidism and systemic lupus erythematosus
- Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives
- Severe diabetic ketoacidosis and coronavirus disease 2019 (COVID-19) infection in a teenage patient with newly diagnosed diabetes
