Neglected case of congenital hypothyroidism in a 17-year-old female

Abstract

Introduction: congenital hypothyroidism is one of the most common endocrinal disorders in newborns. the slow development of obvious clinical symptoms, coupled with the importance of early treatment led to the implementation of widespread newborn screening for this condition. case report: this paper presents a case of congenital hypothyroidism that was born at home and was not screened for hypothyroidism. A 17-year-old female patient complained of short stature, mental retardation, delayed puberty and chronic constipation as a result of neglected hypothyroidism. conclusion: this case discusses the importance of neonatal screening programs for early detection of congenital hypothyroidism cases that are unfortunately still being neglected in some areas of developing countries. It also shows the value of early and adequate replacement therapy for the detected cases as this could protect them against irreversible growth retardation and mental retardation. this is because any diagnostic delay, inadequate treatment or even poor compliance to treatment is always associated with irreversible damage as those manifested in this case.