Congenital Hypothyroidism: Etiology
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V. M. A. Dias
ABSTRACT
The etiology of Congenital Hypothyroidism (CH) is important in determining its severity, prognosis, genetic counseling and clinical management.
Aims: investigate the causes of CH and their severity using serum levels of FreeT4 and TSH.
Patients and Methods: 243 neonates with CH (61% were girls) diagnosed by the Neonatal Screening Program of Minas Gerais between 1996 and 2003. The thyroid function was assessed through serum FreeT4 and TSH by chemilumiscence. CH etiology was evaluated by ultrasonography, scintigraphy, potassium perchlorate discharge test and serum thyroglobulin levels.
Results: Out of 243 patients, dysgenesis was found in 114 (47%): 3.3% had athyreosis; 0.4% eutopic dysgenetic gland due to maternal use of 131I; 22% ectopic glands (8.6% an isolated ectopic gland and 13% also an eutopic dysgenetic thyroid); 9% eutopic dysgenesis, 8.6% hypoplasia and 3.7% hemiagenesis. Thyroid in situ was found in 129 (52%): 23.5% had iodide organification defect; 3.7% thyroglobulin synthesis defect; 6.2% other dyshomonogenesis; 0.4% iodide transport defect; 1.2% transient CH and 18% a normal gland. Patients with dysgenesis had a more severe CH than those with thyroid in situ (TSH 248.08 vs. 18.17 μIU/mL and FT4 0.32 vs. 0.95 ng/dL, p<0.001).
Conclusions: Some cases had more complex dysgenesis, presenting ectopia associated to a dysgenetic eutopic gland. The ultrasound was the best tool to detect the dysgenetic tissue, but the scintigraphy was the most effective in identifying the functioning tissue. The thyroid hormone synthesis defects were found more frequently than expected, but in some cases they could not be defined.
© Freund Publishing House Ltd. 2010
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- Selection of Elite Athletes, Hormones and Genes
- Association of Serum Adiponectin Levels with Artherosclerosis and the Metabolic Syndrome in Obese Children
- Septo-optic Dysplasia
- Hyperandrogenism among Elite Adolescent Female Athletes
- Confirmation of Neonatal Screening: Reference Intervals and Evaluation of Methodological Changes in TSH Measurement
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- Mean Platelet Volume in Obese Adolescents with Nonalcoholic Fatty Liver Disease
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- Familial Hyperinsulinism-Hyperammonemia Syndrome in a Family with Seizures: Case Report
- Genital Sanguineous Discharge in Prepuberty: A Case of Mullerian Papilloma of Vagina in a 9 Year-Old Girl
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