Delayed diagnosis of congenital hypothyroidism in an adolescent results in avoidable complications: a case report
Abstract: Delayed diagnosis of
congenital hyporhyroidism (CH) remains a serious problem. A retrospective
analysis of 1,000 CH cases in Turkey found a mean age of 49 months at the time
of clinical diagnosis. Only 3.1% of cases were diagnosed during the neonatal
period and 55.4% were diagnosed after 2 years of age.1 In Cipto Mangunkusumo
Hospital, Jakarta, 53% cases were diagnosed at 1-5 years, 3.3% at 6-12 years,
and 6.7% after 12 years of age, while the remainder were diagnosed at < 1
year of age.2 The majority of affected children exhibit signs and symptoms that
are highly non-specific, as most infants with CH are asymptomatic at birth, and
only 5% of cases can be diagnosed based on clinical examination during the
first day of life.3 The other factors that contribute to delayed diagnosis are
uneducated parents, who do not notice or dismiss the importance of
mild/moderate deviations in physical and mental growth, as well as
constipation, feeding difficulties, or other vague, non-specific symptoms in
infancy. Parents are often unaware of the importance of early diagnosis and
commencement of therapy for CH.4
Keywords: congenital hypotyroidism;
delayed diagnosis; metabolic syndrome
Author: Indra Ihsan, Eka
Agustia Rini
Journal Code: jpkedokterangg170027
