OBJECTIVE: To determine the age at diagnosis of hypothyroidism, to signify the effect of delayed diagnosis on the clinical presentation of hypothyroidism and hence to emphasize the need for early diagnosis by cost effective neonatal screening. METHODS: The study was a descriptive case series carried out at the Department of Paediatrics, Allied Hospital, Faisalabad from 2004 to 2006. One hundred consecutive cases of hypothyroidism from birth to twelve years of life were included. The age at presentation and age related clinical features were determined. RESULTS: The age at diagnosis ranged from birth to 16 years. Male to female ratio was 1:1. Congenital hypothyroidism was more common than acquired(92% VS 8%). Maximum number of cases (42%) were diagnosed between 1-5 years of age while only 14% were diagnosed before 3 months of age. Developmental delay (66%), constipation (51%) and lethargy (37%) were more common symptoms while common signs were pallor (65%), short stature (61%), coarse facies (53%), wide anterior fontanellae (46%) and coarse skin (42%). CONCLUSION: Early diagnosis by neonatal screening and commencement of treatment is recommended to prevent the effects of delayed diagnosis.
OBJECTIVE: To determine the age at diagnosis of hypothyroidism, to signify the effect of delayed diagnosis on the clinical presentation of hypothyroidism and hence to emphasize the need for early diagnosis by cost effective neonatal screening. METHODS: The study was a descriptive case series carried out at the Department of Paediatrics, Allied Hospital, Faisalabad from 2004 to 2006. One hundred consecutive cases of hypothyroidism from birth to twelve years of life were included. The age at presentation and age related clinical features were determined. RESULTS: The age at diagnosis ranged from birth to 16 years. Male to female ratio was 1:1. Congenital hypothyroidism was more common than acquired(92% VS 8%). Maximum number of cases (42%) were diagnosed between 1-5 years of age while only 14% were diagnosed before 3 months of age. Developmental delay (66%), constipation (51%) and lethargy (37%) were more common symptoms while common signs were pallor (65%), short stature (61%), coarse facies (53%), wide anterior fontanellae (46%) and coarse skin (42%). CONCLUSION: Early diagnosis by neonatal screening and commencement of treatment is recommended to prevent the effects of delayed diagnosis.