Clinical, diagnostic, and follow-up characteristics of children with ectopic thyroid: An 11-year tertiary referral center experience

Abstract

T hyroid dysgenesis is the most common cause of permanent congenital hypothyroidism (CH) and it comprises ectopia, hypoplasia, agenesis, or hemi-agenesis of the thyroid gland [1]. Ectopic thyroid (ET) is an aberrancy of the thyroid embryogenesis during its passage from the floor of the primitive foregut to the final anatomical position in the pre-tracheal position and accounts for 49-61% of the thyroid dysgenesis [2,3]. The prevalence of ET in other populations is 1 in 100,000 to 300,000 [3][4][5]. The clinical information on the spectrum of manifestations of ET in South Indian children is scanty [1]. Understanding the clinical profile of the various types of ET and the response to treatment helps the optimization of the clinician's approach to the patient. Hence, this study was undertaken to analyze the clinical, biochemical, and scintigraphy characteristics among children presenting with ET and their clinical and biochemical response to treatment. METHODSThis retrospective observational study was conducted in a single tertiary hospital. The case records of all infants and children diagnosed with ET and treated between January 2005 and March 2016 in the department of Pediatric Endocrinology at our center were studied. Most of the cases were referred to the specialist center seeking treatment, while a few were infants diagnosed at birth in this hospital. Physical examination of thyroid gland included search in its normal position or in the known ectopic sites-front of the neck or lingual. All infants and children with abnormal thyroid function tests (TFTs) at initial presentation had scintigraphy done before initiation of thyroxine (T4) therapy to establish the etiology and to confirm permanent hypothyroidism.Gamma camera was used for nuclear scan to obtain static planar images of head and neck regions in anterior projection ABSTRACT Background: Information on the clinical data and follow-up of ectopic thyroid (ET) in pediatric population in India is scanty; hence, this study aims to add more information on this entity. Objective: This study was undertaken to analyze the clinical, biochemical characteristics, and scintigraphy findings at diagnosis and follow-up response to thyroxine (T4) replacement in children with ET. Methods: This study was conducted at the Paediatric Endocrinology Department of Tertiary Center from January 2005 to March 2016. In children with abnormal thyroid function, scintigraphy was done before T4 replacement to establish the diagnosis of permanent congenital hypothyroidism. Thyroid dose modification, growth monitoring was done on follow-up. In infants and children without an etiological diagnosis, at ≥3 years of age, thyroid function test, scintigraphy was done after stopping treatment for 4 weeks. The initial clinical, biochemical parameters, follow-up data were analyzed. Results: Among 54 children with ET, 39 (72.2%) were girls. The mean age of presentation was 3.3 years and the average age at diagnosis on the basis of presentation with isolated short stature was 7.3 years. Developmenta...