Congenital Primary Hypothyroidism Diagnosed at Advanced Ages

Abstract

Objective: Aim of this study was to investigate that clinical and laboratory findings of sixteen cases who were referred to our endocrinology outpatient clinic due to a complaint of growth and developmental delay and who were diagnosed with primary congenital hypothyroidism at advanced ages. Material and Method: Sixteen cases of which the youngest was minimum six and the oldest was 23 years old were enrolled into the study. Anthropometrical measures, chrono-logical, height and bone ages of the patients were recorded. Hypothyroidism was diagnosed by the decrease in free thyroxin (sT4) levels and the elevated in serum thyroid stimulating hormone (TSH) levels. To clarify the etiology, thyroglobulin (TG) level and thyroid ultrasonography were studied from the patient. Also thyroid scintigraphy was performed to the patients without a thyroid tissue at a normal anatomical localization. Results: The mean diagnostic age in our cases was 12.6 +/- 4.3 years and female were predominant was present (female/male: 4/14). Height, weights and bone ages of patients were severely retarded. Ectopia was determined in two patients while in twelve patients the thyroid gland was hypoplastic. The thyroid gland was within normal borders in one patient for age and gender and hyperplasic in another case. Conclusion: We wanted to emphasize that congenital hypothyroidism should be kept in mind in cases with developmental delay and mental retardation as these may be non-diagnosed congenital hypothyroidism also infant or early childhood outside. It must be remember, diagnose of these patients may delay until the pre-adolescence and even prior the adulthood. We wish attract attention to the national screening program for congenital hypothyroidism by this study.