Affiliations 

  • 1 Hospital Pulau Pinang
MyJurnal

Abstract

26 cases of congenital hypothyroidism were diagnosed at the Penang General Hospital from 1979 to 1993. Therewere 19 femalesand7males, thefemaletomaleratiowas2 .7 : 1. All three main ethnic groups were almost equally afflicted (10 Chinese,8Malays,8 Indians). The mean age at diagnosis was 15.8 months (range 21 days — 9 years) and only 11 (42.3%) patients were diagnosed within thefirst three months of life. 19 (73.7%) patients were diagnosed within thefirstyear and 7 (26.3%) after the firstyear. The correct referral diagnosis was made in less than half (n = 11) of the patients, with a mean of 2.3 doctors being consulted prior to the diagnosis. The five most common clinical features were coarse facies (n = 22), dry skin (n = 22), macroglossia (n = 21), lethargy (n = 20) and constipation (n = 19). The develop-ment quotient was appropriate for chronologi-cal age in less than one third (n = 8) of patients while the school performance was at least average in only less than one third (n = 5) of school-goers (n = 16). The mean (SD) T4 at diagnosis was 23.7 (12.2) nmollL while the mean (SD) TSH at diagnosis was 72.7 (37.0) mUIL. In the light of these clinical findings, screening for congenital hypothyroidism with a view to early diagnosis and prompt treatment are strongly recommended.