CONGENITAL HYPOTHYROIDISM AS CAUSE OF SHORT STATURE IN A 17-YEAR-OLD ZAMBIAN FEMALE – A CASE REPORT.

Abstract

Congenital hypothyroidism(CH) is a disorder characterized by a deficiency of thyroid hormones at birth. This results in delayed mental and motor milestones with short stature. A 17-year-old female presented to the University Teaching hospital-Children's Hospital, with a history of delayed developmental milestones and growth since the age of 6 months. Examination revealed an open anterior fontanel, short stature, coarse facies, thick skin, a distended abdomen with reduceable umbilical hernia, and kyphoscoliosis. Thyroid function tests showed features of primary congenital hypothyroidism, the patient was put on Levothyroxine, and drastic improvements were noted, the patient will need lifelong thyroid replacement and follow-up to monitor growth and complications. Despite the significant improvement in the patient's condition after the introduction of Levothyroxine, the delay in diagnosis and treatment due to late presentation to the hospital has left some irreversible consequences, especially in terms of growth and skeletal development, this case emphasizes the importance of newborn screening programs which can help detect hypothyroidism early, allowing timely treatment that can prevent long term complications as seen in our case.