Congenital Hypothyroidism in a Five Year Old Nigerian Girl: A Case Report

Abstract

Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency present at birth, with an incidence of 1: 3000 - 4000 infants worldwide. It usually manifest in neonatal period or early infancy. The diagnosis can be delayed where routine screening is not done. Untreated infants have profound mental retardation and severe growth restriction. This case report presents a 5 year old girl seen with poor growth, speech and learning difficulties. She was the smallest in class and cuddled by her mates. Her speech was muffled and could not read nor write like her mates. She had delayed milestones, poor growth and reduced activity compared to siblings. Examination revealed anthropometric measurements below the third percentile. She had macroglossia and coarse dry skin. TSH was elevated (>50(μi.u/ml), while T3 and T4 were both unrecordable. Thyroid ultrasound scan revealed hypoplasia, while x-rays and echocardiography showed delayed bone age and mild pericardial effusion respectively. L-thyroxine therapy was commenced, and her growth velocity, school performance and TFT profile over six years improved remarkably. We advocate for routine newborn screening in developing countries including Nigeria, considering the severity of growth stunting and severe mental retardation in CH when diagnosis is missed or treatment delayed.

Keywords: Congenital Hypothyroidism, Thyroid Hormone, Mental Retardation, Growth Restriction