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Primary congenital hypothyroidism: clinical characteristics and etiological study
Kevalee Unachak1, Prapai Dejkhamron
1Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Thailand. kunachak@mail.med.cmu.ac.th
Insights
Congenital hypothyroidism in children often presents with delayed diagnosis and common symptoms like constipation and jaundice. Thyroid dysgenesis is the most frequent cause, but clinical signs alone cannot distinguish between hypothyroidism types.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- Primary congenital hypothyroidism (CH) is a condition affecting newborns, requiring early diagnosis and treatment.
- Delayed diagnosis can lead to severe developmental issues.
- Understanding the etiology and clinical presentation is crucial for effective management.
Purpose of the Study:
- To review the clinical characteristics, diagnostic features, and etiological factors of primary congenital hypothyroidism in children.
- To analyze the age at diagnosis and common presenting symptoms.
- To investigate the prevalence of different causes of CH, including thyroid dysgenesis and dyshormonogenesis.
Main Methods:
- Retrospective review of 48 children diagnosed with primary congenital hypothyroidism at Chiang Mai University Hospital (1977-2000).
- Analysis of patient demographics, age at diagnosis, clinical signs, and laboratory findings (TSH, T4).
- Review of thyroid scintigraphy results to determine etiology (dysgenesis vs. dyshormonogenesis).
Main Results:
- The female to male ratio was 2:1, with diagnosis ages varying widely (1 month to 12+ years).
- Common symptoms included constipation, delayed development, feeding problems, prolonged neonatal jaundice, and goiter.
- Thyroid dysgenesis (athyreosis, hypoplasia, ectopy) was the most common cause (80.9%), followed by thyroid dyshormonogenesis (18.9%).
- Prolonged neonatal jaundice was universal in infants diagnosed within the first three months.
- Clinical findings and bone age assessments were insufficient to differentiate between etiological groups.
Conclusions:
- Primary congenital hypothyroidism in this cohort was frequently diagnosed late, with thyroid dysgenesis being the predominant etiology.
- Early detection through newborn screening is essential to prevent long-term complications.
- Further research is needed to identify specific markers for differentiating CH subtypes for tailored treatment approaches.
Abstract:
Forty-eight children with primary congenital hypothyroidism, who attended Chiang Mai University Hospital, during 1977-2000, were reviewed. The female to male ratio was 2:1. The age at diagnosis ranged from 1 month to 12 years 4 months, with 27% of the cases diagnosed within the first three months of life, 37.5% within the first year, and 62.5% after one year of age. Constipation, delayed development and growth, feeding problems, prolonged neonatal jaundice and goiter were more common. Prolonged neonatal jaundice was found in every case diagnosed within the first three months. The other common signs were dry or mottled skin, abdominal distension, macroglossia, short stature, puffy face and umbilical hernia. Kocher-Debré-Semelaigne syndrome comprised 18.7% of cases with a 2:1 female to male ratio, and it was found in various forms of hypothyroidism. Thyroid scintigrams were done in 47 patients. Thyroid dysgenesis was the most common etiology (80.9%), which consisted of 40.4% athyreosis, 4.3% hypoplasia, and 36.2% thyroid ectopy. Thyroid dyshormonogenesis accounted for 18.9%, in which only 4 of 9 presented with goiter. Two-thirds of these patients showed a positive result to the perchlorate discharge test, indicating an organification defect. A 11 patients had elevated serum TSH level greater than 50 mU/L. The serum T4 level below 2 microg/dL was observed in 17 of 19 patients with athyreosis, 11 of 1 7 with thyroid ectopy, and 6 of 9 with thyroid dyshormonogenesis. These findings including retarded bone age were unable to differentiate among different groups of hypothyroidism.
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