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Subject Area

Pediatrics

Article Type

Original Study

Abstract

Objective Our aim was to search for the risk factors of cases with poor controlled congenital hypothyroidism (CH) in correspondence to their clinical aspect. Background CH is largely caused by thyroid gland dysgenesis, and there is lack of a standardized approach for diagnosis, follow-up, education, and genetic counseling of patients with CH. Patients and methods Genetic counseling and thyroid ultrasonography (US) were done. Blood samples were collected from 56 children (30 girls and 26 boys) with CH, diagnosed on the basis of neonatal screening program done by Egyptian Ministry of Health and Population, Central Health Laboratories, Hormones and Tumour Marker Department. All patients confirmed biochemically with low free thyroxine and high thyroid-stimulating hormone levels were enrolled as cases (group I), along with 56 apparently healthy individuals as controls (group II), who attended the Genetic laboratory of Genetic and Endocrinology Unit, Paediatric Department, Faculty of Medicine, Menoufia University, Egypt. Results A total of 16 (28.6%) patients had poor response to treatment. They were on a high dose of L-thyroxin (100 μg/day or more), with their US findings ranging from normal thyroid sonar in six patients, hypoplastic gland in four patients, and thyroid agenesis in six patients. All healthy control children showed normal US findings. Conclusion US is the first-choice imaging method in revealing the etiology of CH. Family counseling is a key component for enhancing the care of patients with CH.

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