Profile of Congenital Hypothyroidism patients at Hasan Sadikin General Hospital, Bandung, Indonesia 2010-2012

Abstract

Results Twenty six subjects were diagnosed with congenital hypothyroidism, consisted of 15 (57.7%) girls and 11 (42.3%) boys, mean age 11.42 ±10.35 month. The youngest age when the diagnosis (CH) was established was 2 months and the oldest was 46 months. Thirteen subjects (50%) were referred by primary care pediatrician, 5 subjects (19.2%) by general practitioners, 4 subjects by neuropediatrician and 4 subjects by growth and development clinic. The main presenting complaints in CH were global delayed development (69,2%), constipation (50%), prolonged icteric (15.4%) and growth retardation (13.5%). The most common of clinical appearance were hypotonia (69.2%), coarse faces (46.2%), mottled (34.6%), large fontanel (34.6%), umbilical hernia (23.1%) and macroglossia (26.9%). We found 25 subjects were diagnosed as primary CH and only 1 case with secondary CH. The most common etiology of CH was thyroid agenesis (53.8%), thyroid ectopic (19.2%), thyroid hypoplasia (11.5%) and dyshormonogenesis (11.5%). Decreased fT4 value were found in all subjects (mean 0.553±0.35 ng/dl) and mean TSHs value at presentation was 31.02±20.71 mIU/L. Of the 26 late diagnosed CH cases, 46.% had mental and motor development delay, 23.1% short stature and mental retardation, and 15.4% mental retardation and neurological sequel as complications.