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Congenital anomalies in infant with congenital hypothyroidism
Zahra Razavi1, Alireza Yavarikia, Saadat Torabian
1Associate Professor, Pediatric Endocrinologist, Pediatrics Department, Faculty of Medicine, Hamedan University of Medical Sciences.
Insights
Congenital hypothyroidism (CH) is often linked with birth defects. This study found a high frequency of anomalies, including Down syndrome and cardiac issues, in infants with CH in Iran.
Area of Science:
- Pediatric Endocrinology
- Neonatal Screening
- Medical Genetics
Background:
- Congenital hypothyroidism (CH) affects newborn thyroid hormone production.
- Infants with CH frequently exhibit co-occurring congenital malformations.
- Understanding the prevalence of these anomalies is crucial for comprehensive infant care.
Purpose of the Study:
- To investigate the frequency and types of congenital anomalies in infants diagnosed with CH.
- To analyze data from infants born between May 2006-2010 in Hamadan, Iran.
- To highlight the association between CH and other birth defects.
Main Methods:
- Prospective descriptive study of infants diagnosed with CH via screening or clinical detection.
- Data collected from infants followed at Besat Hospital's Pediatric Endocrinology Clinic.
- Congenital anomalies identified through clinical examination, echocardiography, and hip X-rays within the first year of life.
Main Results:
- 150 infants with primary CH were studied (72 female, 78 male).
- 30% of infants (20%) had associated congenital anomalies.
- The most frequent anomaly was Down syndrome; cardiac malformations (ASD, VSD, PS, PDA) and hip dysplasia were also observed.
Conclusions:
- A significant proportion of infants with CH present with congenital anomalies.
- Down syndrome and cardiac malformations were notably common.
- Routine screening for congenital anomalies in infants with CH is essential for early diagnosis and management.
Objective:
Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran.
Methods:
The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study was conducted in infants diagnosed with congenital hypothyroidism being followed up in Pediatric Endocrinology Clinic of Besat Hospital, a tertiary care centre in Hamadan. Cases included all infants with congenital hypothyroidism diagnosed through newborn screening program or detected clinically. Anomalies were identified by clinical examination, echocardiography, and X-ray of the hip during the infant's first year of life.
Results:
A total of 150 infants with biochemically confirmed primary congenital hypothyroidism (72 females and 78 males) were recruited during the period between May 2006-2010. Overall, 30 (20%) infants had associated congenital anomalies. The most common type of anomaly was Down syndrome. Seven infants (3.1%) had congenital cardiac anomalies such as: ASD (n=3), VSD (n=2), PS (n =1), PDA (n=1). Three children (2.6%) had developmental dysplasia of the hip (n=3).
Conclusion:
The overall frequency of Down syndrome, cardiac malformation and other birth defect was high in infants with CH. This reinforces the need to examine all infants with congenital hypothyroidism for the presence of associated congenital anomalies.
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